ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.1963G>A (p.Ala655Thr) (rs576930680)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188088 SCV000241692 uncertain significance not provided 2014-03-05 criteria provided, single submitter clinical testing p.Ala655Thr (GCA>ACA): c.1963 G>A in exon 9 of the MBD5 gene (NM_018328.4) The A655T variant in the MBD5 gene has been reported previously in an individual with intellectual disability only and was inherited from an unaffected parent (Wagenstaller et al., 2007). It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The A655T 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. However, this substitution occurs at a position that is not conserved across species and in silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).
Invitae RCV000554014 SCV000645786 benign Mental retardation, autosomal dominant 1 2017-08-01 criteria provided, single submitter clinical testing

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