ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.3195C>A (p.Val1065=)

gnomAD frequency: 0.00010  dbSNP: rs4493011
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000865242 SCV001006177 likely benign Brugada syndrome 8 2023-10-03 criteria provided, single submitter clinical testing
GeneDx RCV001575483 SCV001802487 uncertain significance not provided 2019-12-09 criteria provided, single submitter clinical testing Reported in a Chinese individual with sudden unexplained nocturnal death syndrome (Wu et al., 2018); In silico analysis, which includes splice predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 30452770)
Ambry Genetics RCV002442813 SCV002612175 likely benign Cardiovascular phenotype 2021-08-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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