ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4994G>C (p.Arg1665Thr)

dbSNP: rs1290867734
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000802413 SCV000942244 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-11-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345791 SCV002645674 uncertain significance Cardiovascular phenotype 2022-09-08 criteria provided, single submitter clinical testing The p.R1665T variant (also known as c.4994G>C), located in coding exon 23 of the DSP gene, results from a G to C substitution at nucleotide position 4994. The arginine at codon 1665 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. 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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