ClinVar Miner

Submissions for variant NM_001171.5(ABCC6):c.4182del (p.Lys1394fs) (rs67791546)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599457 SCV000709963 pathogenic not provided 2018-07-23 criteria provided, single submitter clinical testing The c.4182delG variant has been reported previously in association with PXE (Hu et al., 2003; Schulz et al., 2006). The deletion causes a frameshift starting with codon Lysine 1394, changes this amino acid to an Asparagine residue and creates a premature Stop codon at position 9 of the new reading frame, denoted p.Lys1394AsnfsX9. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It is observed in 13/125308 (0.0104%) alleles from individuals of European background in large population cohorts (Lek et al., 2016). In summary, we consider this variant to be pathogenic.
PXE International RCV000499133 SCV000589110 pathogenic Pseudoxanthoma elasticum no assertion criteria provided research

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