ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7563T>C (p.Asp2521=)

gnomAD frequency: 0.00007  dbSNP: rs984412074
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000773440 SCV000907134 likely benign Cardiomyopathy 2018-07-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825754 SCV000967216 likely benign not specified 2018-05-24 criteria provided, single submitter clinical testing p.Asp2521Asp in exon24 of DSP: This variant is classified as likely benign becau se it does not alter an amino acid residue, it is not located within the splice consensus sequence, and splice prediction algorithms do not predict a newly crea ted splice site. This variant has been identified in 2/33580 Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; db SNP rs984412074). ACMG/AMP criteria applied: BP4, BP7.
Labcorp Genetics (formerly Invitae), Labcorp RCV000866114 SCV001007166 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-11-04 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000773440 SCV001332692 likely benign Cardiomyopathy 2022-05-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000825754 SCV001437404 likely benign not specified 2020-09-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388393 SCV002669839 likely benign Cardiovascular phenotype 2018-07-10 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.
All of Us Research Program, National Institutes of Health RCV004000010 SCV004824133 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-02-05 criteria provided, single submitter clinical testing

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