ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3153C>T (p.Asn1051=)

gnomAD frequency: 0.00017  dbSNP: rs563387839
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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 RCV000150564 SCV000197816 likely benign not specified 2014-11-20 criteria provided, single submitter clinical testing p.Asn1051Asn in exon 23 of DSP: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.1% (25/16590) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org).
Color Diagnostics, LLC DBA Color Health RCV001181126 SCV001346212 likely benign Cardiomyopathy 2018-10-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055967 SCV002417695 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002321622 SCV002610546 likely benign Cardiovascular phenotype 2021-02-19 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.
GeneDx RCV002469026 SCV002765642 likely benign not provided 2020-02-28 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
All of Us Research Program, National Institutes of Health RCV004806086 SCV005428888 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-04-16 criteria provided, single submitter clinical testing

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