ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.1243G>A (p.Val415Met)

gnomAD frequency: 0.00007  dbSNP: rs201978086
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474325 SCV000554490 benign Brugada syndrome 8 2024-01-21 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852710 SCV000995424 benign Congestive heart failure 2019-04-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002383851 SCV002672577 likely benign Cardiovascular phenotype 2019-08-16 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224292 SCV003920027 uncertain significance Sick sinus syndrome 2, autosomal dominant; Brugada syndrome 8; Epilepsy, idiopathic generalized, susceptibility to, 18 2021-03-30 criteria provided, single submitter clinical testing HCN4 NM_005477.2 exon 3 p.Val415Met (c.1243G>A): This variant has not been reported in the literature but is present in 0.3% (133/35436) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/15-73624600-C-T). This variant is present in ClinVar (Variation ID:412788). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
PreventionGenetics, part of Exact Sciences RCV003942503 SCV004765762 benign HCN4-related condition 2021-04-10 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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