ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4297C>T (p.Gln1433Ter)

dbSNP: rs1554108283
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627293 SCV000748285 likely pathogenic not provided 2020-12-22 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 32870709)
Baylor Genetics RCV001332445 SCV001524773 pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2020-06-03 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
CeGaT Center for Human Genetics Tuebingen RCV000627293 SCV001961930 likely pathogenic not provided 2021-07-01 criteria provided, single submitter clinical testing

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