ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.338G>A (p.Gly113Glu)

dbSNP: rs1671313057
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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 RCV001348112 SCV001542400 uncertain significance Multiple gastrointestinal atresias 2020-06-26 criteria provided, single submitter clinical testing 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: "Tolerated"; 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with glutamic acid at codon 113 of the TTC7A protein (p.Gly113Glu). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and glutamic acid.

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