ClinVar Miner

Submissions for variant NM_000401.3(EXT2):c.1492C>T (p.Arg498Ter) (rs772690312)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703422 SCV000832320 pathogenic Multiple exostoses type 2 2018-07-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg465*) in the EXT2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs772690312, ExAC 0.01%). This variant has not been reported in the literature in individuals with EXT2-related disease. Loss-of-function variants in EXT2 are known to be pathogenic (PMID: 19810120). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics,Fulgent Genetics RCV000762844 SCV000893203 pathogenic Multiple exostoses type 2; Seizures, scoliosis, and macrocephaly syndrome 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000703422 SCV000914285 uncertain significance Multiple exostoses type 2 2019-04-05 criteria provided, single submitter clinical testing The EXT2 c.1393C>T (p.Arg465Ter) variant variant is a stop-gained variant, which was observed as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score for this variant, it could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for hereditary multiple osteochondromatosis.
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV001169930 SCV001251660 pathogenic not provided 2020-05-03 criteria provided, single submitter clinical testing

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