ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.674C>G (p.Thr225Ser)

gnomAD frequency: 0.00002  dbSNP: rs267601073
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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 RCV002242329 SCV001537078 uncertain significance Typical absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2021-08-30 criteria provided, single submitter clinical testing This variant, c.674C>G, is a complex sequence change that results in the deletion of 3 and insertion of 1 amino acid(s) in the EFHC1 protein (p.Thr225Ser). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with EFHC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1039609). 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 C55"). 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.

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