ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2597G>A (p.Arg866His)

gnomAD frequency: 0.00001  dbSNP: rs764965132
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208025 SCV000263871 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2015-10-19 criteria provided, single submitter clinical testing
Invitae RCV001228122 SCV001400507 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-06-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426975 SCV002744030 uncertain significance Cardiovascular phenotype 2022-07-13 criteria provided, single submitter clinical testing The p.R866H variant (also known as c.2597G>A), located in coding exon 18 of the DSP gene, results from a G to A substitution at nucleotide position 2597. The arginine at codon 866 is replaced by histidine, an amino acid with highly similar properties. This alteration has been reported in a congenital heart defect (CHD) cohort; however, clinical details were limited (Guelly C et al. PeerJ, 2021 Jan;9:e10711). This amino acid position is highly conserved in available vertebrate species. 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.
CeGaT Center for Human Genetics Tuebingen RCV003437008 SCV004163048 uncertain significance not provided 2022-08-01 criteria provided, single submitter clinical testing

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