ClinVar Miner

Submissions for variant NM_000448.3(RAG1):c.40G>A (p.Ala14Thr)

dbSNP: rs765396585
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002050837 SCV002113580 uncertain significance Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2022-03-19 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. 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 RAG1 protein function. This variant has not been reported in the literature in individuals affected with RAG1-related conditions. This variant is present in population databases (rs765396585, gnomAD 0.0009%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 14 of the RAG1 protein (p.Ala14Thr).
Ambry Genetics RCV003339760 SCV004059436 uncertain significance Inborn genetic diseases 2023-06-27 criteria provided, single submitter clinical testing The c.40G>A (p.A14T) alteration is located in exon 2 (coding exon 1) of the RAG1 gene. This alteration results from a G to A substitution at nucleotide position 40, causing the alanine (A) at amino acid position 14 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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