ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1483_1485delinsTTT (p.Val495Phe)

dbSNP: rs1064795582
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480664 SCV000571533 uncertain significance not provided 2023-05-04 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function
Ambry Genetics RCV002395168 SCV002700815 uncertain significance Cardiovascular phenotype 2018-07-17 criteria provided, single submitter clinical testing The c.1483_1485delGTGinsTTT variant (also known as p.V495F), located in coding exon 12 of the DSP gene, results from an in-frame deletion of GTG and insertion of TTT at nucleotide positions 1483 to 1485. This results in the substitution of the valine residue for a phenylalanine residue at codon 495, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002475939 SCV002791824 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 2021-09-07 criteria provided, single submitter clinical testing

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