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: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001226450 SCV001398763 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-05-23 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.

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