ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8123C>T (p.Ser2708Leu)

gnomAD frequency: 0.00001  dbSNP: rs1194266904
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000793738 SCV000933106 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-03-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002422686 SCV002678941 uncertain significance Cardiovascular phenotype 2022-08-27 criteria provided, single submitter clinical testing The p.S2708L variant (also known as c.8123C>T), located in coding exon 24 of the DSP gene, results from a C to T substitution at nucleotide position 8123. The serine at codon 2708 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is conserved. 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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