ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.489del (p.Phe163fs) (rs1553958143)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521864 SCV000619930 pathogenic not provided 2017-08-14 criteria provided, single submitter clinical testing The c.489delT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.489delT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.489delT variant causes a frameshift starting with codon Phenylalanine 163, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 15 of the new reading frame, denoted p.Phe163LeufsX15. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In summary, we interpret this variant as pathogenic.

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