ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.2680T>A (p.Tyr894Asn)

dbSNP: rs1170985091
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001897366 SCV002149393 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-07-29 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with asparagine at codon 894 of the TMEM67 protein (p.Tyr894Asn). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and asparagine. This variant is not present in population databases (ExAC no frequency). 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 RCV005040471 SCV005682393 uncertain significance COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; RHYNS syndrome; Bardet-Biedl syndrome 14; Nephronophthisis 11 2024-01-20 criteria provided, single submitter clinical testing

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