ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.888_889TA[1] (p.Ile297fs) (rs796052719)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188124 SCV000241731 pathogenic not provided 2014-04-16 criteria provided, single submitter clinical testing c.890_891delTA: p.Ile297ThrfsX19 (I297Tfsx19) in exon 9 of the MBD5 gene (NM_018328.4). The normal sequence with the bases that are deleted in braces is: AATA{TA}CCTC. The c.890_891delTA mutation in the MBD5 gene causes a frameshift starting with codon Isoleucine 297, changes this amino acid to a Threonine residue and creates a premature Stop codon at position 19 of the new reading frame, denoted p.Ile297ThrfsX19. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We interpret this variant to be disease-causing. The variant is found in EPILEPSY panel(s).
GeneReviews RCV000258468 SCV000328437 pathogenic Mental retardation, autosomal dominant 1 2016-07-21 no assertion criteria provided literature only

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