ClinVar Miner

Submissions for variant NM_138576.4(BCL11B):c.785G>A (p.Arg262Gln)

dbSNP: rs1886516216
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330356 SCV001522008 likely pathogenic Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 2020-02-04 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Baylor Genetics RCV001330356 SCV001748912 likely pathogenic Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 2021-06-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002546385 SCV003284715 uncertain significance not provided 2022-07-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with BCL11B-related conditions. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 262 of the BCL11B protein (p.Arg262Gln). This variant is not present in population databases (gnomAD no frequency). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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