ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6240C>T (p.Phe2080=)

gnomAD frequency: 0.00004  dbSNP: rs757650857
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425798 SCV000512883 likely benign not specified 2017-06-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000619914 SCV000734926 likely benign Cardiovascular phenotype 2017-05-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Color Diagnostics, LLC DBA Color Health RCV001525114 SCV001735134 likely benign Cardiomyopathy 2020-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061381 SCV002380330 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2025-01-30 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001525114 SCV004240541 likely benign Cardiomyopathy 2022-08-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004584704 SCV005075464 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing DSP: BP4, BP7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000425798 SCV005204784 likely benign not specified 2024-06-17 criteria provided, single submitter clinical testing

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