ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.318+6T>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002994616 SCV003298881 uncertain significance Glycogen storage disease XV; Polyglucosan body myopathy type 2 2022-07-23 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with GYG1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change falls in intron 3 of the GYG1 gene. It does not directly change the encoded amino acid sequence of the GYG1 protein. It affects a nucleotide within the consensus splice site.

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