ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.584C>T (p.Ala195Val)

gnomAD frequency: 0.00011  dbSNP: rs201375192
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000170947 SCV000055271 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000170947 SCV000223507 likely benign not provided 2020-07-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25642760, 30452770, 23623143, 23861362, 30578647, 31043699)
Ambry Genetics RCV000622073 SCV000736152 likely benign Cardiovascular phenotype 2021-01-05 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.
Invitae RCV001084301 SCV001007226 benign Brugada syndrome 8 2024-01-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001117430 SCV001275616 likely benign Sick sinus syndrome 2, autosomal dominant 2017-06-14 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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