ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6223C>T (p.Arg2075Trp)

gnomAD frequency: 0.00002  dbSNP: rs751050235
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069098 SCV001234244 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-04-09 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001182055 SCV001347378 uncertain significance Cardiomyopathy 2022-02-16 criteria provided, single submitter clinical testing This missense variant replaces arginine with tryptophan at codon 2075 of the DSP protein. Computational prediction tools and conservation analyses suggest that this variant may have deleterious impact on the protein function. To our knowledge, functional assays have not been performed for this variant. This variant has been reported in an individual affected with restrictive cardiomyopathy (PMID: 31064352). This variant has also been identified in 6/282328 chromosomes in the general population by the Genome Aggregation Database (gnomAD). 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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