ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.490C>T (p.His164Tyr)

dbSNP: rs995402027
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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 RCV003770888 SCV001532623 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2020-03-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with EFHC1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with tyrosine at codon 164 of the EFHC1 protein (p.His164Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15").

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