ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.66G>A (p.Leu22=)

gnomAD frequency: 0.00001  dbSNP: rs1234846583
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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 RCV001204000 SCV001375186 uncertain significance Glycogen storage disease XV; Polyglucosan body myopathy type 2 2021-08-26 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 935412). This variant has not been reported in the literature in individuals affected with GYG1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 22 of the GYG1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the GYG1 protein.

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