ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.995G>A (p.Gly332Glu)

gnomAD frequency: 0.00001  dbSNP: rs1171967462
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001987782 SCV002218928 uncertain significance Multiple gastrointestinal atresias 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 332 of the TTC7A protein (p.Gly332Glu). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). 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.
Ambry Genetics RCV003170114 SCV003886307 uncertain significance Inborn genetic diseases 2023-02-22 criteria provided, single submitter clinical testing The c.995G>A (p.G332E) alteration is located in exon 7 (coding exon 7) of the TTC7A gene. This alteration results from a G to A substitution at nucleotide position 995, causing the glycine (G) at amino acid position 332 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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