ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.5154del (p.Lys1719fs)

dbSNP: rs1060501151
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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 RCV000470180 SCV000545112 pathogenic Intellectual disability, autosomal dominant 1 2019-03-26 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual  affected with epilepsy (Invitae). ClinVar contains an entry for this variant (Variation ID: 406452). For these reasons, this variant has been classified as Pathogenic. This sequence change results in a frameshift in the MBD5 gene (p.Lys1486Asnfs*55). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 9 amino acids of the MBD5 protein and extend the protein by an additional 46 amino acids.

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