ClinVar Miner

Submissions for variant NM_016219.5(MAN1B1):c.1731C>G (p.Tyr577Ter)

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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 RCV005180707 SCV005809139 pathogenic Rafiq syndrome 2024-03-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr577*) in the MAN1B1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MAN1B1 are known to be pathogenic (PMID: 24566669). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MAN1B1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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