ClinVar Miner

Submissions for variant NM_000751.3(CHRND):c.249del (p.Gly82_Trp83insTer)

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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 RCV002604718 SCV002963815 pathogenic Lethal multiple pterygium syndrome 2022-03-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp83*) in the CHRND gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHRND are known to be pathogenic (PMID: 11435464, 25264167). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CHRND-related conditions. For these reasons, this variant has been classified as Pathogenic.

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