ClinVar Miner

Submissions for variant NM_001127453.2(GSDME):c.314dup (p.Ser106fs)

dbSNP: rs755613828
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001787674 SCV002031195 uncertain significance not provided 2022-08-25 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Fulgent Genetics, Fulgent Genetics RCV002478022 SCV002780064 uncertain significance Autosomal dominant nonsyndromic hearing loss 5 2021-09-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003407809 SCV004115606 uncertain significance GSDME-related disorder 2023-02-08 criteria provided, single submitter clinical testing The GSDME c.314dupG variant is predicted to result in a frameshift and premature protein termination (p.Ser106Glnfs*48). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.049% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-24784270-G-GC). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Labcorp Genetics (formerly Invitae), Labcorp RCV001787674 SCV005715470 likely benign not provided 2024-11-16 criteria provided, single submitter clinical testing

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