ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.484C>T (p.His162Tyr)

gnomAD frequency: 0.00010  dbSNP: rs112800954
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003767857 SCV000763162 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2022-11-01 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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 not expected to disrupt EFHC1 protein function. ClinVar contains an entry for this variant (Variation ID: 534108). This variant has not been reported in the literature in individuals affected with EFHC1-related conditions. This variant is present in population databases (rs112800954, gnomAD 0.03%). This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 162 of the EFHC1 protein (p.His162Tyr).
Eurofins Ntd Llc (ga) RCV000728500 SCV000856081 uncertain significance not provided 2017-08-16 criteria provided, single submitter clinical testing

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