ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.2210A>G (p.Gln737Arg) (rs146732972)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474429 SCV000554493 likely benign Brugada syndrome 8 2020-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000613948 SCV000714607 likely benign not specified 2017-11-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000617845 SCV000737501 uncertain significance Cardiovascular phenotype 2019-03-12 criteria provided, single submitter clinical testing The p.Q737R variant (also known as c.2210A>G), located in coding exon 8 of the HCN4 gene, results from an A to G substitution at nucleotide position 2210. The glutamine at codon 737 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is 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 variant remains unclear.

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