ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.497C>T (p.Ser166Leu)

gnomAD frequency: 0.00002  dbSNP: rs752931401
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001200429 SCV001371390 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing TTC7A: PM2, BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV002560276 SCV003456045 uncertain significance Multiple gastrointestinal atresias 2022-04-17 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 166 of the TTC7A protein (p.Ser166Leu). This variant is present in population databases (rs752931401, gnomAD 0.006%). 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: 932564). 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: "Benign"; 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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