ClinVar Miner

Submissions for variant NM_153818.1(PEX10):c.752_763del (p.Ser251_Gln255delinsTer) (rs768893724)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673610 SCV000798834 likely pathogenic Peroxisome biogenesis disorder 6A; Peroxisome biogenesis disorder 6B 2018-03-26 criteria provided, single submitter clinical testing
Invitae RCV001048988 SCV001213019 pathogenic Peroxisome biogenesis disorder, complementation group 7 2019-05-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser251*) in the PEX10 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with PEX10-related conditions. ClinVar contains an entry for this variant (Variation ID: 557464). Loss-of-function variants in PEX10 are known to be pathogenic (PMID: 9683594, 10862081, 21031596). For these reasons, this variant has been classified as Pathogenic.

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