ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.2504G>A (p.Ser835Asn)

gnomAD frequency: 0.00004  dbSNP: rs866363880
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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 RCV001037463 SCV001200877 uncertain significance Combined immunodeficiency due to LRBA deficiency 2019-02-20 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 835 of the LRBA protein (p.Ser835Asn). The serine residue is weakly conserved and there is a small physicochemical difference between serine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with LRBA-related conditions. 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: "Possibly 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.
Baylor Genetics RCV001037463 SCV001525231 uncertain significance Combined immunodeficiency due to LRBA deficiency 2020-05-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity RCV001037463 SCV003817057 uncertain significance Combined immunodeficiency due to LRBA deficiency 2022-11-25 criteria provided, single submitter clinical testing

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