ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.4855G>T (p.Val1619Leu)

gnomAD frequency: 0.00060  dbSNP: rs143883830
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698540 SCV000827208 uncertain significance Combined immunodeficiency due to LRBA deficiency 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1619 of the LRBA protein (p.Val1619Leu). This variant is present in population databases (rs143883830, gnomAD 0.2%). 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: 576122). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002533528 SCV003660465 uncertain significance Inborn genetic diseases 2021-10-14 criteria provided, single submitter clinical testing The c.4855G>T (p.V1619L) alteration is located in exon 30 (coding exon 29) of the LRBA gene. This alteration results from a G to T substitution at nucleotide position 4855, causing the valine (V) at amino acid position 1619 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GenomeConnect, ClinGen RCV000698540 SCV002818428 not provided Combined immunodeficiency due to LRBA deficiency no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 10-12-2021 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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