ClinVar Miner

Submissions for variant NM_001077418.3(TMEM231):c.919C>T (p.Arg307Trp)

gnomAD frequency: 0.00002  dbSNP: rs770715825
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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 RCV001925007 SCV002170691 uncertain significance Joubert syndrome 20; Meckel syndrome, type 11 2024-12-02 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 360 of the TMEM231 protein (p.Arg360Trp). This variant is present in population databases (rs770715825, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with TMEM231-related conditions. ClinVar contains an entry for this variant (Variation ID: 1399815). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Not Available". The tryptophan amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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