ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.1262_1263dup (p.Ala422fs)

dbSNP: rs1590618958
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008116 SCV001167869 pathogenic not provided 2022-07-22 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 (gnomAD); This variant is associated with the following publications: (PMID: 10679937, 9463333)
Labcorp Genetics (formerly Invitae), Labcorp RCV001215652 SCV001387406 pathogenic Exostoses, multiple, type 2 2022-02-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala422Metfs*15) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with multiple osteochondromas (PMID: 9463333; Invitae). ClinVar contains an entry for this variant (Variation ID: 817044). For these reasons, this variant has been classified as Pathogenic.

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