ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.635A>C (p.Gln212Pro)

gnomAD frequency: 0.00005  dbSNP: rs145134902
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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 RCV001071109 SCV001236396 uncertain significance Multiple gastrointestinal atresias 2019-02-26 criteria provided, single submitter clinical testing This sequence change replaces glutamine with proline at codon 212 of the TTC7A protein (p.Gln212Pro). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and proline. This variant is present in population databases (rs145134902, ExAC 0.04%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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