ClinVar Miner

Submissions for variant NM_182916.3(TRNT1):c.1205A>G (p.Lys402Arg)

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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 RCV002620489 SCV003506844 uncertain significance Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 2022-04-24 criteria provided, single submitter clinical testing This variant is present in population databases (rs561378563, gnomAD 0.01%). 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 TRNT1-related conditions. This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 402 of the TRNT1 protein (p.Lys402Arg).

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