ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.2685T>A (p.Phe895Leu)

dbSNP: rs1808622944
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001209719 SCV001381166 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2019-10-18 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 (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 and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with TMEM67-related conditions. This sequence change replaces phenylalanine with leucine at codon 895 of the TMEM67 protein (p.Phe895Leu). The phenylalanine residue is weakly conserved and there is a small physicochemical difference between phenylalanine and leucine.

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