ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.266T>A (p.Met89Lys)

gnomAD frequency: 0.00001  dbSNP: rs755771170
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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 RCV000823540 SCV000964401 uncertain significance Multiple gastrointestinal atresias 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces methionine with lysine at codon 89 of the TTC7A protein (p.Met89Lys). The methionine residue is weakly conserved and there is a moderate physicochemical difference between methionine and lysine. This variant is present in population databases (rs755771170, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with TTC7A-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.

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