ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.1215_1218del (p.Arg405fs)

dbSNP: rs1369118661
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008755 SCV001168537 pathogenic not provided 2023-10-09 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: 18976157, 9521425)
Invitae RCV001386491 SCV001586734 pathogenic Multiple congenital exostosis 2023-06-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 817594). This variant is also known as 1866del4. This premature translational stop signal has been observed in individual(s) with multiple exostoses (PMID: 9521425, 18976157). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg405Serfs*19) in the EXT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EXT1 are known to be pathogenic (PMID: 10679937, 11391482, 19810120).

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