ClinVar Miner

Submissions for variant NM_001044385.3(TMEM237):c.851C>T (p.Thr284Ile)

dbSNP: rs1015591586
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001981004 SCV002282835 uncertain significance Joubert syndrome 14 2022-08-19 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 284 of the TMEM237 protein (p.Thr284Ile). 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: "Probably Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 1492502). This variant has not been reported in the literature in individuals affected with TMEM237-related conditions.

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