ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.1731dup (p.Asn578fs)

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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 RCV003056730 SCV003446420 pathogenic Exostoses, multiple, type 2 2024-05-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn578Glufs*2) 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). This variant is present in population databases (no rsID available, gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal dominant osteochondromas (Invitae). ClinVar contains an entry for this variant (Variation ID: 2140989). For these reasons, this variant has been classified as Pathogenic.

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