ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer) (rs1398892633)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669833 SCV000794624 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2017-10-04 criteria provided, single submitter clinical testing
GeneDx RCV001008714 SCV001168494 likely pathogenic not provided 2018-12-06 criteria provided, single submitter clinical testing The c.1886_1887delGT variant in the PEX1 gene has been reported previously in the heterozygous state in a fibroblast cell line derived from a patient with Zellweger syndrome spectrum (Ebberink et al., 2011); it is unclear if this cell line harbored a second PEX1 variant. The c.1886_1887delGT variant causes a frameshift start at codon Cysteine 629, changing this amino acid to a premature stop codon, denoted p.C629Ter. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1886_1887delGT variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.1886_1887delGT as a likely pathogenic variant.

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