Submissions for variant NM_002617.4(PEX10):c.755_756del (p.His252fs)

dbSNP: rs1325771720

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000665115	SCV000789181	likely pathogenic	Peroxisome biogenesis disorder 6A (Zellweger); Peroxisome biogenesis disorder 6B	2017-01-20	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001784230	SCV002016581	pathogenic	not provided	2019-09-11	criteria provided, single submitter	clinical testing
Invitae	RCV002532039	SCV003485039	pathogenic	Peroxisome biogenesis disorder, complementation group 7	2023-12-04	criteria provided, single submitter	clinical testing	This sequence change results in a frameshift in the PEX10 gene (p.His272Profs*86). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 75 amino acid(s) of the PEX10 protein and extend the protein by 10 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PEX10-related conditions. ClinVar contains an entry for this variant (Variation ID: 550383). This variant disrupts a region of the PEX10 protein in which other variant(s) (p.Arg331Gln) have been determined to be pathogenic (PMID: 20695019, 27230853). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics	RCV003472069	SCV004201411	likely pathogenic	Peroxisome biogenesis disorder 6A (Zellweger)	2023-02-18	criteria provided, single submitter	clinical testing