ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.4318C>T (p.Arg1440Ter)

dbSNP: rs978179634
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657783 SCV000779536 pathogenic not provided 2022-05-19 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously reported as pathogenic or benign in an affected individual to our knowledge; This variant is associated with the following publications: (PMID: 31589614)
Labcorp Genetics (formerly Invitae), Labcorp RCV005091889 SCV005782030 pathogenic Intellectual disability, autosomal dominant 1 2024-11-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1207*) 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: 546027). For these reasons, this variant has been classified as Pathogenic.

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