ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.878A>G (p.His293Arg)

dbSNP: rs150578101
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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 RCV001297001 SCV001485982 uncertain significance Multiple gastrointestinal atresias 2021-11-19 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1000816). This variant has not been reported in the literature in individuals affected with TTC7A-related conditions. This variant is present in population databases (rs150578101, gnomAD 0.005%). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 293 of the TTC7A protein (p.His293Arg).

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