ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.496del (p.Val166fs)

dbSNP: rs770937339
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris RCV001647252 SCV001519315 pathogenic Spastic ataxia 2021-01-04 criteria provided, single submitter research
Invitae RCV002546251 SCV003196296 pathogenic Peroxisome biogenesis disorder, complementation group 7 2023-05-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1027530). This variant has not been reported in the literature in individuals affected with PEX10-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val166Serfs*38) 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 RCV004570798 SCV005055240 likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger) 2024-02-07 criteria provided, single submitter clinical testing

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