ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4061A>G (p.Asn1354Ser)

gnomAD frequency: 0.00001  dbSNP: rs746333083
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001209817 SCV001381267 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-05-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163591 SCV003867556 likely benign Cardiovascular phenotype 2022-11-19 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 RCV004010674 SCV004829065 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-07-20 criteria provided, single submitter clinical testing This missense variant replaces asparagine with serine at codon 1354 of the DSP protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). 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 been identified in 4/250606 chromosomes 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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