ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.934_942del (p.Ala312_Pro314del)

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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 RCV002866201 SCV003225834 uncertain significance Glycogen storage disease XV; Polyglucosan body myopathy type 2 2022-10-03 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with GYG1-related conditions. This variant, c.934_942del, results in the deletion of 3 amino acid(s) of the GYG1 protein (p.Ala312_Pro314del), but otherwise preserves the integrity of the reading frame.

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