ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.569C>T (p.Thr190Ile)

gnomAD frequency: 0.00002  dbSNP: rs1430629936
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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 RCV003770898 SCV001534270 uncertain significance Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2022-07-12 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 190 of the EFHC1 protein (p.Thr190Ile). This variant has not been reported in the literature in individuals affected with EFHC1-related conditions. 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: 1037327).

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