ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.1379C>A (p.Ser460Ter)

dbSNP: rs878910680
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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 RCV001962826 SCV002208043 pathogenic Intellectual disability, autosomal dominant 1 2024-10-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser460*) in the MBD5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MBD5 are known to be pathogenic (PMID: 23422940, 23587880). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MBD5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1437405). For these reasons, this variant has been classified as Pathogenic.

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