ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.5906G>C (p.Gly1969Ala)

gnomAD frequency: 0.00004  dbSNP: rs745608560
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000798682 SCV000938308 uncertain significance Combined immunodeficiency due to LRBA deficiency 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 1969 of the LRBA protein (p.Gly1969Ala). The glycine residue is weakly conserved and there is a small physicochemical difference between glycine and alanine. This variant is present in population databases (rs745608560, ExAC 0.006%). This missense change has been observed in individual(s) with LRBA-related conditions (Invitae). 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.
Mendelics RCV000798682 SCV001136777 likely pathogenic Combined immunodeficiency due to LRBA deficiency 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000998304 SCV001154293 uncertain significance not provided 2018-10-01 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252239 SCV002522845 uncertain significance See cases 2021-10-13 criteria provided, single submitter clinical testing ACMG classification criteria: PM2

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