ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.243C>T (p.Cys81=)

dbSNP: rs947998304
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001392075 SCV001593708 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-08-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456611 SCV002737247 likely benign Cardiovascular phenotype 2021-07-01 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.
Color Diagnostics, LLC DBA Color Health RCV003532970 SCV004363257 uncertain significance Cardiomyopathy 2022-11-07 criteria provided, single submitter clinical testing This variant is located in the DSP protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with DSP-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
All of Us Research Program, National Institutes of Health RCV004006854 SCV004824923 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-08-08 criteria provided, single submitter clinical testing This variant is located in the DSP protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with DSP-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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