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
Labcorp Genetics (formerly Invitae), Labcorp RCV003107859 SCV003783235 pathogenic not provided 2022-07-26 criteria provided, single submitter clinical testing 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). This variant is not present in population databases (gnomAD no frequency). 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 also known as p.R17G. ClinVar contains an entry for this variant (Variation ID: 1339283). 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"). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV001823808 SCV002073383 pathogenic Bryant-Li-Bhoj neurodevelopmental syndrome 1 2022-02-01 no assertion criteria provided literature only

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