ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7396G>A (p.Val2466Met)

gnomAD frequency: 0.00001  dbSNP: rs745862520
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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 RCV001226450 SCV001398763 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-03-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379866 SCV002673600 uncertain significance Cardiovascular phenotype 2021-03-18 criteria provided, single submitter clinical testing The p.V2466M variant (also known as c.7396G>A), located in coding exon 24 of the DSP gene, results from a G to A substitution at nucleotide position 7396. The valine at codon 2466 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004004813 SCV004831620 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-10-02 criteria provided, single submitter clinical testing This missense variant replaces valine with methionine at codon 2466 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 2/251276 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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