ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.631del (p.Val211fs)

gnomAD frequency: 0.00001  dbSNP: rs1429663478
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001060726 SCV001225431 pathogenic Glycogen storage disease XV; Polyglucosan body myopathy type 2 2022-03-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 855451). 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 creates a premature translational stop signal (p.Val211Cysfs*30) in the GYG1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GYG1 are known to be pathogenic (PMID: 20357282, 25272951).

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