ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8481_8492del (p.2827_2830SGSR[4])

dbSNP: rs397516968
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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 RCV000038109 SCV000061775 likely benign not specified 2013-02-11 criteria provided, single submitter clinical testing Ser2843_Arg2846del in exon 24 of DSP: This variant is not expected to have clini cal significance because it has been identified in 1.45% (62/4266) of African Am erican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). This in-frame deletion of four amino acids occurs within a section of repeating amino acids, which can result from several different DNA deletions, and is present in mammals (dolphin, opossum, and platy pus) and other evolutionarily distant species.
GeneDx RCV000766890 SCV000233675 likely benign not provided 2019-05-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27532257, 21636032)
Color Diagnostics, LLC DBA Color Health RCV001525687 SCV001735867 likely benign Cardiomyopathy 2020-12-04 criteria provided, single submitter clinical testing
Invitae RCV001852801 SCV002125189 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444483 SCV002680817 likely benign Cardiovascular phenotype 2020-07-30 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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