ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.985C>T (p.Leu329Phe)

gnomAD frequency: 0.00001  dbSNP: rs1191771886
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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 RCV001061480 SCV001226224 uncertain significance Multiple gastrointestinal atresias 2022-08-10 criteria provided, single submitter clinical testing 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 856087). This variant has not been reported in the literature in individuals affected with TTC7A-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 329 of the TTC7A protein (p.Leu329Phe). 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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