ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4526G>A (p.Arg1509Lys)

gnomAD frequency: 0.00001  dbSNP: rs577061462
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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 RCV000221227 SCV000271729 uncertain significance not specified 2015-03-11 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Arg1509Lys va riant in DSP has not been previously reported in individuals with cardiomyopathy , but has been identified in 0.1% (19/16428) of South Asian chromosomes by the E xome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs57706 1462). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, while the cl inical significance of the p.Arg1509Lys variant is uncertain, its frequency sugg ests that it is more likely to be benign.
Invitae RCV000641844 SCV000763494 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-01-31 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000771205 SCV000903210 likely benign Cardiomyopathy 2020-04-29 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000771205 SCV001332687 benign Cardiomyopathy 2018-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001555477 SCV001776909 likely benign not provided 2020-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002327087 SCV002633431 likely benign Cardiovascular phenotype 2020-06-24 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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