ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7919G>A (p.Gly2640Asp)

dbSNP: rs1759606289
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170148 SCV001332695 uncertain significance Cardiomyopathy 2019-01-07 criteria provided, single submitter clinical testing
GeneDx RCV001664723 SCV001874188 uncertain significance not provided 2021-06-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 915496; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 26582918, 27535533)

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