ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.1628C>T (p.Thr543Ile)

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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 RCV003077170 SCV003456072 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-10-05 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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 expected to disrupt TMEM67 protein function. This variant has not been reported in the literature in individuals affected with TMEM67-related conditions. This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 543 of the TMEM67 protein (p.Thr543Ile).

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