ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.550G>T (p.Val184Phe)

gnomAD frequency: 0.00021  dbSNP: rs558446131
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003772800 SCV002180499 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2021-04-27 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with EFHC1-related conditions. This variant is present in population databases (rs558446131, ExAC 0.2%). This sequence change replaces valine with phenylalanine at codon 184 of the EFHC1 protein (p.Val184Phe). The valine residue is moderately conserved and there is a small physicochemical difference between valine and phenylalanine.

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