ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.244del (p.Asp82fs)

dbSNP: rs1555002457
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000535208 SCV000640985 pathogenic Exostoses, multiple, type 2 2022-04-04 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: 465699). This variant is also known as 239-244delG. This premature translational stop signal has been observed in individual(s) with multiple osteochondromatosis (PMID: 18666861, 25449079). 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.Asp82Ilefs*30) 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).

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