ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.926T>G (p.Val309Gly)

gnomAD frequency: 0.00001  dbSNP: rs750006477
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002023980 SCV002309764 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-02-10 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 309 of the TMEM67 protein (p.Val309Gly). This variant is present in population databases (rs750006477, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with TMEM67-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TMEM67 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.
Fulgent Genetics, Fulgent Genetics RCV002492387 SCV002776305 uncertain significance COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; RHYNS syndrome; Bardet-Biedl syndrome 14; Nephronophthisis 11 2022-04-11 criteria provided, single submitter clinical testing

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