ClinVar Miner

Submissions for variant NM_005324.5(H3-3B):c.119A>G (p.His40Arg)

dbSNP: rs1555585486
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622957 SCV000742211 uncertain significance Inborn genetic diseases 2019-05-10 criteria provided, single submitter clinical testing
GeneDx RCV003151798 SCV003840878 likely pathogenic not provided 2024-11-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33268356, 27535533)
Illumina Laboratory Services, Illumina RCV005401534 SCV006059815 likely pathogenic Bryant-Li-Bhoj neurodevelopmental syndrome 2 2024-06-21 criteria provided, single submitter clinical testing The H3-3B c.119A>G p.(His40Arg) missense variant has been reported in a de novo state in an individual with Bryant-Li-Bhoj neurodevelopmental syndrome (BRYLIB). Additionally, a different amino acid substitution at the same codon in the H3-3A gene, which encodes an identical protein as H3-3B, has also been reported in a de novo state in an individual with BRYLIB (PMID: 33268356). This region is a hot spot in both the H3-3B and H3-3A genes (PMID: 33268356; 34876591). This variant is not observed in version 2.1.1 or version 4.1.0 of the Genome Aggregation Database. Based on the available evidence, the c.119A>G p.(His40Arg) variant is classified as likely pathogenic for Bryant-Li-Bhoj neurodevelopmental syndrome.

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