ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.2634T>G (p.Asn878Lys)

gnomAD frequency: 0.00006  dbSNP: rs192288680
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001981727 SCV002221461 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 878 of the TMEM67 protein (p.Asn878Lys). This variant is present in population databases (rs192288680, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with TMEM67-related conditions. ClinVar contains an entry for this variant (Variation ID: 1444216). 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294494 SCV002587628 uncertain significance Kidney disorder 2017-05-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002484736 SCV002781089 uncertain significance COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; RHYNS syndrome; Bardet-Biedl syndrome 14; Nephronophthisis 11 2022-02-08 criteria provided, single submitter clinical testing

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