ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.87C>A (p.Phe29Leu)

gnomAD frequency: 0.00003  dbSNP: rs766782158
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001065778 SCV001230762 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-11-28 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 29 of the TMEM67 protein (p.Phe29Leu). This variant is present in population databases (rs766782158, gnomAD 0.004%). This missense change has been observed in individual(s) with clinical features of Joubert syndrome (PMID: 17160906). ClinVar contains an entry for this variant (Variation ID: 859620). 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 not 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 RCV002489693 SCV002801494 uncertain significance COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; RHYNS syndrome; Bardet-Biedl syndrome 14; Nephronophthisis 11 2022-04-09 criteria provided, single submitter clinical testing

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