ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.2025_2028del (p.Met675fs) (rs1131691713)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493484 SCV000582696 pathogenic not provided 2017-04-24 criteria provided, single submitter clinical testing The c.2025_2028delGGAT variant in the MBD5 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2025_2028delGGAT variant causes a frameshift starting with codon Methionine 675, changes this amino acid to an Isoleucine residue, and creates a premature Stop codon at position 13 of the new reading frame, denoted p.Met675IlefsX13. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2025_2028delGGAT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.2025_2028delGGAT as a pathogenic variant.

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