ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.454_457del (p.Val154fs)

dbSNP: rs864309636
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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 RCV000002575 SCV001226248 pathogenic Exostoses, multiple, type 2 2023-07-21 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: 2471). This variant is also known as 784-787del. This premature translational stop signal has been observed in individual(s) with clinical features of multiple exostoses (PMID: 8782816). 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.Val154Profs*115) 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).
PreventionGenetics, part of Exact Sciences RCV003415629 SCV004108986 pathogenic EXT2-related disorder 2023-05-15 criteria provided, single submitter clinical testing The EXT2 c.454_457delCTGT variant is predicted to result in a frameshift and premature protein termination (p.Val154Profs*115). This variant has been previously reported in an individual with hereditary multiple osteochondromas (Table 2, Fusco et al. 2019. PubMed ID: 30806661). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in EXT2 are expected to be pathogenic. This variant is interpreted as pathogenic.
OMIM RCV000002575 SCV000022733 pathogenic Exostoses, multiple, type 2 1996-09-01 no assertion criteria provided literature only

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