ClinVar Miner

Submissions for variant NM_005609.2(PYGM):c.425_528del (rs764313717)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000454242 SCV000800559 uncertain significance Glycogen storage disease, type V 2017-07-07 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories,Oregon Health and Sciences University RCV000454242 SCV000538059 likely pathogenic Glycogen storage disease, type V 2015-12-04 criteria provided, single submitter clinical testing The c.425-26A>G intron variant in the PYGM gene has been previously reported in one affected individual with autosomal recessive McArdle disease who harbored this variant in trans with a second common pathogenic missense variant (G205S). This variant has been shown to result in atypical mild phenotype (Vissing et al., 2009). Splicing studies show this c.425-26A>G variant causes exon skipping of exon 4 in the PYGM gene (Vissing et al., 2009). The c.425-26A>G variant is present at low frequencies (ExAC = 0.006%) or absent in the control population databases (Exome Sequencing Project [ESP] and 1000 Genomes). PYGM is the only gene in which mutations are known to cause McArdle disease. Therefore, this collective evidence supports the classification of the c.425-26A>G as a recessive likely pathogenic variant for McArdle disease.
OMIM RCV000002406 SCV000022564 pathogenic McArdle disease, mild 2009-06-01 no assertion criteria provided literature only

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