ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1369C>T (p.Arg457Cys)

gnomAD frequency: 0.00015  dbSNP: rs373196171
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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 RCV003766604 SCV000552788 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2022-08-16 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 411569). This variant has not been reported in the literature in individuals affected with EFHC1-related conditions. This variant is present in population databases (rs373196171, gnomAD 0.04%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 457 of the EFHC1 protein (p.Arg457Cys).
Athena Diagnostics RCV002473017 SCV002771155 uncertain significance not provided 2021-06-14 criteria provided, single submitter clinical testing

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