ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3343A>G (p.Thr1115Ala)

gnomAD frequency: 0.00001  dbSNP: rs761524542
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000824518 SCV000965418 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2022-09-01 criteria provided, single submitter clinical testing
GeneDx RCV001550002 SCV001770258 uncertain significance not provided 2020-10-23 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 666097; Landrum et al., 2016); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function
Ambry Genetics RCV002319931 SCV002609104 uncertain significance Cardiovascular phenotype 2019-08-06 criteria provided, single submitter clinical testing The p.T1115A variant (also known as c.3343A>G), located in coding exon 23 of the DSP gene, results from an A to G substitution at nucleotide position 3343. The threonine at codon 1115 is replaced by alanine, an amino acid with similar 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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