ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1839C>T (p.Thr613=)

gnomAD frequency: 0.00007  dbSNP: rs397516921
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038001 SCV000061667 likely benign not specified 2012-08-30 criteria provided, single submitter clinical testing Thr613Thr in exon 15 of DSP: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. Thr613Thr in exon 15 of DSP (allele frequency = n/a)
Color Diagnostics, LLC DBA Color Health RCV001188368 SCV001355419 likely benign Cardiomyopathy 2018-10-22 criteria provided, single submitter clinical testing
Invitae RCV001487512 SCV001692002 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-10-14 criteria provided, single submitter clinical testing
GeneDx RCV000876838 SCV001764517 likely benign not provided 2019-04-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408515 SCV002710942 likely benign Cardiovascular phenotype 2021-04-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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