ClinVar Miner

Submissions for variant NM_021072.4(HCN1):c.835C>T (p.His279Tyr)

dbSNP: rs587777495
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Provincial Medical Genetics Program of British Columbia, University of British Columbia RCV000128462 SCV002320870 likely pathogenic Developmental and epileptic encephalopathy, 24 2022-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003588579 SCV004293726 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-03-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects HCN1 function (PMID: 24747641). 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. ClinVar contains an entry for this variant (Variation ID: 139575). This missense change has been observed in individual(s) with early infantile epileptic encephalopathy (PMID: 24747641). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 279 of the HCN1 protein (p.His279Tyr).
OMIM RCV000128462 SCV000172164 pathogenic Developmental and epileptic encephalopathy, 24 2014-06-01 no assertion criteria provided literature only

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