ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.2025C>T (p.Ala675=)

gnomAD frequency: 0.00013  dbSNP: rs149033101
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596080 SCV000704892 uncertain significance not provided 2017-01-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082690 SCV001004966 likely benign Brugada syndrome 8 2024-01-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001120901 SCV001279421 likely benign Sick sinus syndrome 2, autosomal dominant 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000596080 SCV001797163 likely benign not provided 2020-10-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420574 SCV002717979 likely benign Cardiovascular phenotype 2019-03-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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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