ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.4729del (p.Ser1577fs)

dbSNP: rs2105131625
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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 RCV002007142 SCV002227883 pathogenic Intellectual disability, autosomal dominant 1 2021-07-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with MBD5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser1344Alafs*21) 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).

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