ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.782_783del (p.Gln261fs) (rs749067142)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169270 SCV000220571 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2014-08-01 criteria provided, single submitter literature only
Invitae RCV000169270 SCV000938495 pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2018-12-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln261Argfs*8) in the PEX1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs749067142, ExAC 0.009%). This variant has been observed in combination with another PEX1 variant in individuals affected with peroxisome biogenesis disorders (PMID: 19105186, 23247051). ClinVar contains an entry for this variant (Variation ID: 188910). Loss-of-function variants in PEX1 are known to be pathogenic (PMID: 9398847, 16086329, 16141001, 21031596). For these reasons, this variant has been classified as Pathogenic.

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