ClinVar Miner

Submissions for variant NM_001077418.3(TMEM231):c.793A>G (p.Met265Val)

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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 RCV002912908 SCV003248385 uncertain significance Joubert syndrome 20; Meckel syndrome, type 11 2022-04-11 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 318 of the TMEM231 protein (p.Met318Val). This variant is present in population databases (rs766469530, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with TMEM231-related conditions. 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: "Not Available"; Align-GVGD: "Class C0"). 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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