ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.2299_2302del (p.Asn767fs)

dbSNP: rs1060501153
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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 RCV000459819 SCV000545116 pathogenic Intellectual disability, autosomal dominant 1 2016-10-13 criteria provided, single submitter clinical testing While this particular variant has not been reported in the literature, truncating variants in MBD5 are known to be pathogenic (PMID: 23422940). This sequence change deletes 4 nucleotide from exon 9 of the MBD5 mRNA (c.2299_2302delAACT), causing a frameshift at codon 767. This creates a premature translational stop signal (p.Asn767Leufs*16) and is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.

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