ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.302C>T (p.Ala101Val)

gnomAD frequency: 0.00018  dbSNP: rs781730381
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000458888 SCV000541561 likely benign Brugada syndrome 8 2024-12-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436380 SCV002754335 uncertain significance Cardiovascular phenotype 2024-04-09 criteria provided, single submitter clinical testing The p.A101V variant (also known as c.302C>T), located in coding exon 1 of the HCN4 gene, results from a C to T substitution at nucleotide position 302. The alanine at codon 101 is replaced by valine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004533142 SCV004121547 uncertain significance HCN4-related disorder 2023-04-28 criteria provided, single submitter clinical testing The HCN4 c.302C>T variant is predicted to result in the amino acid substitution p.Ala101Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.047% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/15-73660310-G-A). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004701486 SCV005204988 uncertain significance not specified 2024-06-09 criteria provided, single submitter clinical testing

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