ClinVar Miner

Submissions for variant NM_030957.4(ADAMTS10):c.954_961dup (p.Ile321fs)

dbSNP: rs2146082887
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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 RCV001952459 SCV002201519 pathogenic not provided 2022-01-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile321Argfs*5) in the ADAMTS10 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ADAMTS10 are known to be pathogenic (PMID: 15368195, 18567016). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ADAMTS10-related conditions. For these reasons, this variant has been classified as Pathogenic.

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