ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2794-4dup

gnomAD frequency: 0.00023  dbSNP: rs397516924
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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 RCV000038016 SCV000061682 uncertain significance not specified 2015-01-28 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The c.2794-4_2794-3 insA variant in DSP has been previously reported by our laboratory in 2 African American individuals, 1 with DCM and 1 with an unspecified cardiomyopathy. It h as also been identified in 0.1% (12/10132) of African chromosomes by the Exome A ggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs397516924). This variant is located in the 3' splice region. Computational tools do not sug gest an impact to splicing. However, this information is not predictive enough t o rule out pathogenicity. In summary, while the clinical significance of the c.2 794-4_2794-3insA variant is uncertain, its frequency suggests that it is more li kely to be benign.
GeneDx RCV002509187 SCV000718520 likely benign not provided 2024-02-23 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp RCV000869158 SCV001010562 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2025-01-27 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001250984 SCV001339616 likely benign Cardiomyopathy 2019-04-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433503 SCV002748316 likely benign Cardiovascular phenotype 2023-06-29 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000038016 SCV003933764 uncertain significance not specified 2023-05-22 criteria provided, single submitter clinical testing

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