ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.398_401dup (p.Met135fs)

dbSNP: rs886041272
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000300307 SCV000329604 pathogenic not provided 2021-08-16 criteria provided, single submitter clinical testing Frameshift 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 significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000527949 SCV000640987 pathogenic Exostoses, multiple, type 2 2019-11-07 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with EXT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 279944). Loss-of-function variants in EXT2 are known to be pathogenic (PMID: 10679937, 19810120). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Met135Alafs*8) in the EXT2 gene. It is expected to result in an absent or disrupted protein product.

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