ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.718C>G (p.Leu240Val)

gnomAD frequency: 0.00006  dbSNP: rs144671396
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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 RCV001206357 SCV001377661 uncertain significance Multiple gastrointestinal atresias 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 240 of the TTC7A protein (p.Leu240Val). This variant is present in population databases (rs144671396, gnomAD 0.02%). 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: 937362). 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: "Possibly 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.

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