ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6584A>G (p.His2195Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002364516 SCV002664666 uncertain significance Cardiovascular phenotype 2019-01-02 criteria provided, single submitter clinical testing The p.H2195R variant (also known as c.6584A>G), located in coding exon 24 of the DSP gene, results from an A to G substitution at nucleotide position 6584. The histidine at codon 2195 is replaced by arginine, an amino acid with highly 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV005227656 SCV005862331 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-06-04 criteria provided, single submitter clinical testing

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