ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1568C>T (p.Ser523Phe)

gnomAD frequency: 0.00001  dbSNP: rs1276338018
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000794903 SCV000934338 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-05-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002397584 SCV002707249 uncertain significance Cardiovascular phenotype 2019-07-31 criteria provided, single submitter clinical testing The p.S523F variant (also known as c.1568C>T), located in coding exon 12 of the DSP gene, results from a C to T substitution at nucleotide position 1568. The serine at codon 523 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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