ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4515G>A (p.Ala1505=)

dbSNP: rs193197554
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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 RCV000038047 SCV000061713 likely benign not specified 2013-01-30 criteria provided, single submitter clinical testing Ala1505Ala in exon 23 of DSP: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 1/8600 European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS/), and in 1/176 Yoruba chromosomes from a broad population by the 1000 Genomes Project (dbSNP rs193197554). Ala1505Ala in exon 23 of DSP (rs193197554; allele frequency = 1/8600) **
PreventionGenetics, part of Exact Sciences RCV000038047 SCV000310360 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000641829 SCV000763479 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-01-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000777970 SCV000914073 likely benign Cardiomyopathy 2018-10-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001171853 SCV001334728 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing DSP: BP4, BP7
Ambry Genetics RCV002336136 SCV002635151 likely benign Cardiovascular phenotype 2022-10-11 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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