ClinVar Miner

Submissions for variant NM_002296.4(LBR):c.287G>A (p.Arg96Gln)

dbSNP: rs769191817
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001102489 SCV001259162 uncertain significance Greenberg dysplasia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV002556056 SCV003515810 uncertain significance not provided 2023-08-14 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 877058). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. This variant has not been reported in the literature in individuals affected with LBR-related conditions. This variant is present in population databases (rs769191817, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 96 of the LBR protein (p.Arg96Gln).

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