ClinVar Miner

Submissions for variant NM_153704.5(TMEM67):c.517T>C (p.Cys173Arg) (rs138783896)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204053 SCV000260210 uncertain significance Joubert syndrome; Meckel-Gruber syndrome 2015-08-26 criteria provided, single submitter clinical testing This sequence change replaces cysteine with arginine at codon 173 of the TMEM67 protein (p.Cys173Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine. This variant is present in population databases (rs138783896, 0.02%) but has not been published in the literature. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this is a rare missense change with uncertain impact on protein function. There is no indication that this variant causes disease, but the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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