ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.1470_1478del (p.490_492PRS[1]) (rs1553518587)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658320 SCV000780092 uncertain significance not provided 2018-05-16 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the MBD5 gene. The c.1470_1478delCAGGTCACC variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1470_1478delCAGGTCACC variant is not observed in large population cohorts (Lek et al., 2016). The c.1470_1478delCAGGTCACC variant results in an in-frame deletion of 3 amino acid residues, denoted p.Pro493_Ser495del. This variant is not predicted to cause loss of normal protein function through protein truncation or nonsense-mediated mRNA decay. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. However, to our knowledge, only loss-of-function pathogenic variants in MBD5 have been published in association with epilepsy. 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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