ClinVar Miner

Submissions for variant NM_199355.4(ADAMTS18):c.736C>T (p.Arg246Ter)

gnomAD frequency: 0.00001  dbSNP: rs2056812732
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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 RCV001381756 SCV001580254 pathogenic not provided 2022-06-20 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: 1069791). This variant has not been reported in the literature in individuals affected with ADAMTS18-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg246*) in the ADAMTS18 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ADAMTS18 are known to be pathogenic (PMID: 23818446, 24874986).

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