ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1527G>T (p.Gly509=)

dbSNP: rs397516917
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Total submissions: 3
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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 RCV000037995 SCV000061661 likely benign not specified 2012-05-15 criteria provided, single submitter clinical testing Gly509Gly in Exon 12 of DSP: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. Gly509Gly in Exon 12 of DSP (allele frequency = n/a)
Invitae RCV001496784 SCV001701496 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2019-05-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390152 SCV002705423 likely benign Cardiovascular phenotype 2022-04-18 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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