ClinVar Miner

Submissions for variant NM_153704.5(TMEM67):c.934T>C (p.Ser312Pro) (rs864622335)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204544 SCV000260211 uncertain significance Joubert syndrome; Meckel-Gruber syndrome 2015-08-26 criteria provided, single submitter clinical testing This sequence change replaces serine with proline at codon 312 of the TMEM67 protein (p.Ser312Pro). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and proline. This variant is not present in population databases and has not been published in the literature. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this is a novel missense change that is not predicted to affect protein function or cause disease. However the evidence is insufficient at this time to prove that conclusively. It has been classified as a Variant of Uncertain Significance.

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