ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.2586_2667del (p.Ser863fs)

dbSNP: rs1559094754
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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 RCV000698489 SCV000827155 pathogenic Intellectual disability, autosomal dominant 1 2018-04-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser863Leufs*25) in the MBD5 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MBD5-related disease. Loss-of-function variants in MBD5 are known to be pathogenic (PMID: 23422940, 23587880). For these reasons, this variant has been classified as Pathogenic.

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