ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.1886T>A (p.Ile629Lys)

gnomAD frequency: 0.00001  dbSNP: rs1213811614
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001961877 SCV002134789 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-07-05 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1365690). This variant has not been reported in the literature in individuals affected with TMEM67-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces isoleucine, which is neutral and non-polar, with lysine, which is basic and polar, at codon 629 of the TMEM67 protein (p.Ile629Lys).

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