ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.2306A>G (p.Lys769Arg)

dbSNP: rs775700661
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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 RCV001050252 SCV001214351 uncertain significance Multiple gastrointestinal atresias 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 769 of the TTC7A protein (p.Lys769Arg). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs775700661, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with TTC7A-related conditions. 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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