ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.937C>T (p.Gln313Ter)

dbSNP: rs763718818
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000254724 SCV000321619 pathogenic not provided 2021-11-12 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 17041877, 16283885, 33726816, 28849184)
Invitae RCV000552959 SCV000640992 pathogenic Exostoses, multiple, type 2 2024-01-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln313*) in the EXT2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EXT2 are known to be pathogenic (PMID: 10679937, 19810120). This variant is present in population databases (rs763718818, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with multiple osteochondromas (PMID: 16283885, 28849184). ClinVar contains an entry for this variant (Variation ID: 265134). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV003930032 SCV004738237 pathogenic EXT2-related disorder 2023-11-03 criteria provided, single submitter clinical testing The EXT2 c.937C>T variant is predicted to result in premature protein termination (p.Gln313*). This variant has been reported in individuals with multiple osteochondromas (Wuyts et al. 2005. PubMed ID: 16283885; Table S1, Jennes et al. 2009. PubMed ID: 19810120; described as c.1036C>T/p.Gln346X in Xu et al. 2017. PubMed ID: 28849184). This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-44146532-C-T). Nonsense variants in EXT2 are expected to be pathogenic. This variant is interpreted as pathogenic.

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