ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4500G>T (p.Leu1500=)

gnomAD frequency: 0.00039  dbSNP: rs372881903
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Total submissions: 6
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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 RCV000038046 SCV000061712 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Leu1500Leu in Exon 23 of DSP: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence. It has been identified in 1/3738 African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS;).
GeneDx RCV000038046 SCV000518284 likely benign not specified 2018-02-06 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000459687 SCV000555765 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2025-01-30 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001188104 SCV001355076 likely benign Cardiomyopathy 2018-11-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000038046 SCV001360931 benign not specified 2019-09-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002326739 SCV002637597 likely benign Cardiovascular phenotype 2018-11-06 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.

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