ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.124C>G (p.Pro42Ala)

gnomAD frequency: 0.00001  dbSNP: rs865919847
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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 RCV001901350 SCV002168404 uncertain significance Multiple gastrointestinal atresias 2022-10-24 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1403869). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 0.004%). This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 42 of the TTC7A protein (p.Pro42Ala).

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