ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1363G>A (p.Ala455Thr)

gnomAD frequency: 0.00009  dbSNP: rs147112070
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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 RCV001316716 SCV001507349 uncertain significance Multiple gastrointestinal atresias 2022-08-12 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 455 of the TTC7A protein (p.Ala455Thr). This variant is present in population databases (rs147112070, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with TTC7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1017547). 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.
Ambry Genetics RCV002543704 SCV003759858 uncertain significance Inborn genetic diseases 2022-03-21 criteria provided, single submitter clinical testing The c.1363G>A (p.A455T) alteration is located in exon 11 (coding exon 11) of the TTC7A gene. This alteration results from a G to A substitution at nucleotide position 1363, causing the alanine (A) at amino acid position 455 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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