ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.692_703del (p.Ser231_Gln235delinsTer)

dbSNP: rs768893724
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Total submissions: 3
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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 (Zellweger); Peroxisome biogenesis disorder 6B 2018-03-26 criteria provided, single submitter clinical testing
Invitae RCV001048988 SCV001213019 pathogenic Peroxisome biogenesis disorder, complementation group 7 2022-07-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PEX10-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 557464). This variant is present in population databases (rs768893724, gnomAD 0.0009%). 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. Loss-of-function variants in PEX10 are known to be pathogenic (PMID: 9683594, 10862081, 21031596).
Baylor Genetics RCV004568558 SCV005055236 likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger) 2024-03-09 criteria provided, single submitter clinical testing

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