ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.5744C>T (p.Ala1915Val)

gnomAD frequency: 0.00019  dbSNP: rs201500267
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000802234 SCV000942056 uncertain significance Combined immunodeficiency due to LRBA deficiency 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1915 of the LRBA protein (p.Ala1915Val). This variant is present in population databases (rs201500267, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with LRBA-related conditions. ClinVar contains an entry for this variant (Variation ID: 647675). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV002537144 SCV003744949 uncertain significance Inborn genetic diseases 2021-10-13 criteria provided, single submitter clinical testing The c.5744C>T (p.A1915V) alteration is located in exon 36 (coding exon 35) of the LRBA gene. This alteration results from a C to T substitution at nucleotide position 5744, causing the alanine (A) at amino acid position 1915 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV000802234 SCV004183530 uncertain significance Combined immunodeficiency due to LRBA deficiency 2024-03-05 criteria provided, single submitter clinical testing

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