ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.935T>C (p.Met312Thr)

dbSNP: rs552879320
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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 RCV001226407 SCV001398719 uncertain significance Multiple gastrointestinal atresias 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 312 of the TTC7A protein (p.Met312Thr). This variant is present in population databases (rs552879320, gnomAD 0.05%). 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: 954025). 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. 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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