ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.1431dup (p.Ser478fs)

dbSNP: rs1554578798
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000554263 SCV000626129 pathogenic Multiple congenital exostosis 2023-09-09 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: 456062). This variant is also known as 2077-2082insC and 2077ins1. This premature translational stop signal has been observed in individuals with chondrosarcoma (PMID: 8981950, 9521425, 19810120, 25468659, 25541963). 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.Ser478Leufs*43) 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 RCV000627404 SCV000748398 pathogenic not provided 2020-10-30 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 in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 18373409, 8981950, 17041877, 10679937, 25468659, 19810120, 9521425, 21499719, 25541963, 30334991, 31400121)
OMIM RCV002267737 SCV000022760 pathogenic Chondrosarcoma 1997-01-01 no assertion criteria provided literature only

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