ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.8078C>T (p.Ala2693Val)

dbSNP: rs562981599
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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 RCV000797986 SCV000937578 uncertain significance Combined immunodeficiency due to LRBA deficiency 2022-11-22 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 LRBA protein function. ClinVar contains an entry for this variant (Variation ID: 644136). This variant has not been reported in the literature in individuals affected with LRBA-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2704 of the LRBA protein (p.Ala2704Val).
Ambry Genetics RCV002537066 SCV003588655 uncertain significance Inborn genetic diseases 2021-12-06 criteria provided, single submitter clinical testing The c.8111C>T (p.A2704V) alteration is located in exon 55 (coding exon 54) of the LRBA gene. This alteration results from a C to T substitution at nucleotide position 8111, causing the alanine (A) at amino acid position 2704 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000797986 SCV004805935 uncertain significance Combined immunodeficiency due to LRBA deficiency 2024-03-25 criteria provided, single submitter clinical testing

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