ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.1930C>T (p.Pro644Ser)

dbSNP: rs1730263409
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001267771 SCV002210548 uncertain significance Combined immunodeficiency due to LRBA deficiency 2021-04-18 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. 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"). This variant has not been reported in the literature in individuals with LRBA-related conditions. ClinVar contains an entry for this variant (Variation ID: 973648). This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 644 of the LRBA protein (p.Pro644Ser). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and serine.
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini RCV001267771 SCV001424089 uncertain significance Combined immunodeficiency due to LRBA deficiency 2020-05-21 no assertion criteria provided clinical testing

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