ClinVar Miner

Submissions for variant NM_021072.4(HCN1):c.701A>T (p.Tyr234Phe)

dbSNP: rs1554037381
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000535446 SCV000634003 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2024-03-12 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 234 of the HCN1 protein (p.Tyr234Phe). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with HCN1-related conditions (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 461375). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt HCN1 protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.

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