ClinVar Miner

Submissions for variant NM_018328.5(MBD5):c.1934_1935GA[1] (p.Arg645_Asp646insTer)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008043 SCV001167776 likely pathogenic not provided 2018-06-18 criteria provided, single submitter clinical testing The c.1936_1937delGA variant in the MBD5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1936_1937delGA variant causes a frameshift starting with codon Aspartic acid 646 changes this amino acid to a premature Stop codon, denoted p.Asp646Ter. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1936_1937delGA variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1936_1937delGA as a likely pathogenic variant.

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