ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2546A>C (p.His849Pro)

gnomAD frequency: 0.00021  dbSNP: rs184487763
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001189246 SCV001356502 likely benign Cardiomyopathy 2020-06-30 criteria provided, single submitter clinical testing
Invitae RCV001403218 SCV001605082 likely benign Arrhythmogenic right ventricular dysplasia 11 2023-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429833 SCV002740619 uncertain significance Cardiovascular phenotype 2019-04-22 criteria provided, single submitter clinical testing The p.H849P variant (also known as c.2546A>C), located in coding exon 16 of the DSC2 gene, results from an A to C substitution at nucleotide position 2546. The histidine at codon 849 is replaced by proline, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and proline is the reference amino acid in other 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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