ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.692T>C (p.Ile231Thr) (rs199530726)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724602 SCV000233142 uncertain significance not provided 2015-03-11 criteria provided, single submitter clinical testing
GeneDx RCV000724602 SCV000589942 uncertain significance not provided 2018-02-14 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the MBD5 gene. The I231T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The I231T variant is observed in 2/10134 (0.02%) alleles from individuals of Ashkenazi Jewish background and in 15/276464 (0.005%) global alleles in large population cohorts (Lek et al., 2016). The I231T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. To our knowledge, only loss-of-function pathogenic variants in MBD5 have been published in association with epilepsy. This substitution occurs at a position where amino acids with similar properties to Isoleucine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Genetic Services Laboratory, University of Chicago RCV000180663 SCV000595707 likely benign not specified 2016-06-08 criteria provided, single submitter clinical testing
Invitae RCV001087689 SCV001009240 benign Mental retardation, autosomal dominant 1 2019-12-31 criteria provided, single submitter clinical testing

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