ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1333_1334delinsGT (p.Pro445Val)

dbSNP: rs2104485354
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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 RCV001362801 SCV001558837 uncertain significance Multiple gastrointestinal atresias 2020-05-30 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with TTC7A-related conditions. 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. 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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with valine at codon 445 of the TTC7A protein (p.Pro445Val). The proline residue is moderately conserved and there is a small physicochemical difference between proline and valine.

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