ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1702G>A (p.Ala568Thr)

dbSNP: rs774511591
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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 RCV001917892 SCV002170705 uncertain significance Multiple gastrointestinal atresias 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 568 of the TTC7A protein (p.Ala568Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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