ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.4458A>T (p.Lys1486Asn) (rs1553523408)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658396 SCV000780168 uncertain significance not provided 2018-05-25 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the MBD5 gene. The K1486N variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). The K1486N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter 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.

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