ClinVar Miner

Submissions for variant NM_002107.7(H3-3A):c.52A>G (p.Arg18Gly)

dbSNP: rs2102735576
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003107859 SCV003783235 pathogenic not provided 2022-07-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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: "Benign"; Align-GVGD: "Class C65"). ClinVar contains an entry for this variant (Variation ID: 1339283). This variant is also known as p.R17G. This missense change has been observed in individual(s) with Bryant-Li-Bhoj neurodevelopmental syndrome (PMID: 33268356). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 18 of the H3F3A protein (p.Arg18Gly).
OMIM RCV001823808 SCV002073383 pathogenic Bryant-Li-Bhoj neurodevelopmental syndrome 1 2022-02-01 no assertion criteria provided literature only

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