ClinVar Miner

Submissions for variant NM_001171.5(ABCC6):c.1132C>T (p.Gln378Ter) (rs72650699)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413373 SCV000490388 pathogenic not provided 2018-01-23 criteria provided, single submitter clinical testing The Q378X nonsense variant in the ABCC6 gene has been reported previously in association with PXE (Cai et al., 2001; Gheduzzi et al., 2004; Pfendner et al., 2007). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Q378X is also found in the ABCC6 pseudogenes, however it is thought to have been transferred to the ABCC6 gene by gene conversion in some individuals (Cai et al., 2001). The variant is observed in 5/17232 (0.029%) alleles from individuals of East Asian background in large population cohorts (Lek et al., 2016). In summary, we consider this variant to be pathogenic.
PXE International RCV000499037 SCV000588949 pathogenic Pseudoxanthoma elasticum no assertion criteria provided research

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