ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.1817G>A (p.Trp606Ter)

dbSNP: rs1586990317
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000820160 SCV000960859 pathogenic Multiple congenital exostosis 2021-11-01 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: 662503). This premature translational stop signal has been observed in individual(s) with hereditary multiple exostoses (PMID: 9150727). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp606*) 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).
GeneDx RCV005092445 SCV005848225 pathogenic not provided 2024-08-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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; This variant is associated with the following publications: (PMID: 25525159, 38666931, 11391482, 9150727)

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