ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1196T>C (p.Leu399Pro)

dbSNP: rs2104453742
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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 RCV001882098 SCV002163675 uncertain significance Multiple gastrointestinal atresias 2021-10-09 criteria provided, single submitter clinical testing 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This missense change has been observed in individual(s) with combined immunodeficiency with multiple intestinal atresias (PMID: 23830146). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 399 of the TTC7A protein (p.Leu399Pro).

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