ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.2107C>T (p.Pro703Ser)

gnomAD frequency: 0.00003  dbSNP: rs749594871
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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 RCV000633663 SCV000754924 uncertain significance Multiple gastrointestinal atresias 2022-05-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TTC7A-related conditions. This variant is present in population databases (rs749594871, gnomAD 0.006%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 703 of the TTC7A protein (p.Pro703Ser). ClinVar contains an entry for this variant (Variation ID: 528458). 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: "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.

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