ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1265A>T (p.Tyr422Phe)

gnomAD frequency: 0.00004  dbSNP: rs750259384
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000349416 SCV000464169 uncertain significance Juvenile myoclonic epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003766057 SCV001539956 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2022-07-26 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 422 of the EFHC1 protein (p.Tyr422Phe). This variant is present in population databases (rs750259384, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with EFHC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 357485). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The phenylalanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.

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