ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.436C>T (p.Arg146Trp)

gnomAD frequency: 0.00001  dbSNP: rs138592761
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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 RCV001979287 SCV002252772 uncertain significance Multiple gastrointestinal atresias 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 146 of the TTC7A protein (p.Arg146Trp). This variant is present in population databases (rs138592761, gnomAD 0.01%). 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: 1465106). 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.
Fulgent Genetics, Fulgent Genetics RCV002484831 SCV002793187 uncertain significance Gastrointestinal defects and immunodeficiency syndrome 1 2021-10-19 criteria provided, single submitter clinical testing

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