ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1501G>A (p.Val501Ile)

gnomAD frequency: 0.00003  dbSNP: rs368778031
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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 RCV000154708 SCV000204388 uncertain significance not specified 2014-08-08 criteria provided, single submitter clinical testing The Val501Ile variant in DSP has not been previously reported in individuals wit h cardiomyopathy, but has been identified in 1/8600 of European American chromos omes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). Computational prediction tools and conservation analysis do not provide strong s upport for or against an impact to the protein. In summary, the clinical signifi cance of the Val501Ile variant is uncertain.
Invitae RCV001850118 SCV002186697 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-01-13 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003531983 SCV004363300 uncertain significance Cardiomyopathy 2023-09-01 criteria provided, single submitter clinical testing This missense variant replaces valine with isoleucine at codon 501 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 been reported in an individual suspected of having hypertrophic cardiomyopathy (PMID: 30847666). This variant has also been identified in 8/251454 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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