ClinVar Miner

Submissions for variant NM_003200.5(TCF3):c.1430G>A (p.Arg477Gln)

gnomAD frequency: 0.00012  dbSNP: rs199957863
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001941138 SCV002217269 uncertain significance not provided 2023-11-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 477 of the TCF3 protein (p.Arg477Gln). This variant is present in population databases (rs199957863, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with TCF3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1432193). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TCF3 protein function with a negative predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV002484636 SCV002780700 uncertain significance Agammaglobulinemia 8, autosomal dominant; Agammaglobulinemia 8b, autosomal recessive 2022-04-15 criteria provided, single submitter clinical testing

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