ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.2153A>G (p.Asn718Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV002510685 SCV002820198 uncertain significance Intellectual disability, autosomal dominant 1 criteria provided, single submitter clinical testing The missense variant c.2153A>G (p.Asn718Ser) in MBD5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Asn718Ser variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Asn at position 718 is changed to a Ser changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by SIFT and the residue is conserved across species. The amino acid change p.Asn718Ser in MBD5 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

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