ClinVar Miner

Submissions for variant NM_153818.1(PEX10):c.890T>C (p.Leu297Pro) (rs724160000)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675117 SCV000800671 uncertain significance Peroxisome biogenesis disorder 6A; Peroxisome biogenesis disorder 6B 2018-03-08 criteria provided, single submitter clinical testing
Invitae RCV001206752 SCV001378076 likely pathogenic Peroxisome biogenesis disorder, complementation group 7 2019-07-31 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 297 of the PEX10 protein (p.Leu297Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with peroxisomal biogenesis disorders (PMID: 19127411, 30640048). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 162432). This variant has been reported to affect PEX10 protein function (PMID: 26319495). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000149810 SCV000196634 pathogenic Peroxisome biogenesis disorder 6B 2009-02-01 no assertion criteria provided literature only

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