NM_005609.3(PYGM):c.1827G>A (p.Lys609=) AND Glycogen storage disease, type V
| Significance: | Likely pathogenic |
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| ClinVar: | RCV000002403 |
Variant: NM_005609.3(PYGM):c.1827G>A (p.Lys609=) |
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| Type: | Variant |
Allele: NM_005609.3(PYGM):c.1827G>A (p.Lys609=) 17352 |
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| Gene: | PYGM |
| Type: | single nucleotide variant |
| Location: |
Chr11: 64519069
- assembly
GRCh37 Chr11: 64751597 - assembly GRCh38 |
| References: | dbSNP:
119103259 OMIM: 608455.0016 |
Condition |
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| Disease: | Glycogen storage disease, type V |
Citation |
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In a patient with McArdle disease (GSD5; 232600), Fernandez-Cadenas et al. (2003) identified compound heterozygosity for mutations in the PYGM gene. One of the mutations, 1827G-A, was a silent mutation (lys608 to lys; K608K). cDNA studies showed that the change resulted in a severe mosaic alteration in mRNA splicing with multiple aberrant transcripts, including exon skipping, activation of cryptic splice sites, and exon-intron reorganization. The same mutation was identified in a second patient, supporting the idea that the K608K mutation has a primary pathogenic role. The second mutation was a 1722T-G transversion, resulting in a tyr573-to-ter (Y573X) (608455.0017) substitution. PMID:14638972 |
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