ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.284G>A (p.Arg95His)

gnomAD frequency: 0.00005  dbSNP: rs143703574
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176016 SCV000227599 uncertain significance not provided 2015-01-17 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000324486 SCV000371831 likely benign Exostoses, multiple, type 2 2017-04-28 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000324486 SCV001372998 uncertain significance Exostoses, multiple, type 2 2023-04-27 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt EXT2 protein function. ClinVar contains an entry for this variant (Variation ID: 195446). This variant has not been reported in the literature in individuals affected with EXT2-related conditions. This variant is present in population databases (rs143703574, gnomAD 0.07%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 95 of the EXT2 protein (p.Arg95His).

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