ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.352C>T (p.Arg118Cys)

gnomAD frequency: 0.00003  dbSNP: rs764096785
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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 RCV003771079 SCV001558417 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2022-07-06 criteria provided, single submitter clinical testing 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: 1053974). This missense change has been observed in individual(s) with juvenile myoclonic epilepsy (PMID: 22727576). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs764096785, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 118 of the EFHC1 protein (p.Arg118Cys). 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.
Revvity Omics, Revvity RCV003490223 SCV004234676 uncertain significance not provided 2023-11-21 criteria provided, single submitter clinical testing

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