ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8496ATCTCGCTCCGG[1] (p.2827SGSR[4])

dbSNP: rs397516971
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Total submissions: 8
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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 RCV000038112 SCV000061778 likely benign not specified 2015-02-18 criteria provided, single submitter clinical testing p.Ser2843_Arg2846del in exon 24 of DSP: This variant is not expected to have cli nical significance because it has been identified in 0.4% (50/11494) of Latino c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org). This in-frame deletion of four amino acids occurs within a region of repe ating amino acids. It can result from several different DNA deletions, and is pr esent in mammals (dolphin, opossum, and platypus) and other evolutionarily dista nt species.
GeneDx RCV000845325 SCV000233697 likely benign not provided 2018-07-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27532257, 24503780, 21636032, 25445213, 31402444)
Labcorp Genetics (formerly Invitae), Labcorp RCV001079689 SCV000641358 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2025-01-17 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000038112 SCV000987371 likely benign not specified 2025-02-17 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001186904 SCV001353514 likely benign Cardiomyopathy 2018-11-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000038112 SCV001360929 benign not specified 2024-11-15 criteria provided, single submitter clinical testing Variant summary: DSP c.8508_8519delATCTCGCTCCGG (p.Ser2843_Arg2846del) results in an in-frame deletion in a repeat region that is predicted to remove 4 amino acids from the encoded protein. The variant allele was found at a frequency of 0.00024 in 246768 control chromosomes, predominantly at a frequency of 0.0012 within the African or African-American subpopulation in the gnomAD database. The observed variant frequency within African or African-American control individuals in the gnomAD database is approximately 6 fold of the estimated maximal expected allele frequency for a pathogenic variant in DSP causing Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy phenotype (0.0002). c.8508_8519delATCTCGCTCCGG has been reported in the literature in at least 1 individual affected with decreased left ventricular ejection fraction (example, Carrick_2024). It was also observed in at least 1 healthy control individual (example, Kapplinger_2011). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 39011630, 36437915, 36212137, 25445213, 21636032). ClinVar contains an entry for this variant (Variation ID: 44975). Based on the evidence outlined above, the variant was classified as benign.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001186904 SCV002043309 likely benign Cardiomyopathy 2021-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408516 SCV002675433 likely benign Cardiovascular phenotype 2018-09-07 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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