Submissions for variant NM_002618.4(PEX13):c.355G>A (p.Val119Ile)

gnomAD frequency: 0.00181  dbSNP: rs147707348

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001081489	SCV000431350	uncertain significance	Peroxisome biogenesis disorder 11A (Zellweger)	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Eurofins Ntd Llc (ga)	RCV000594107	SCV000700583	likely benign	not specified	2017-05-02	criteria provided, single submitter	clinical testing
Invitae	RCV001081489	SCV001025430	likely benign	Peroxisome biogenesis disorder 11A (Zellweger)	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000882202	SCV001152315	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	PEX13: BS2
Mayo Clinic Laboratories, Mayo Clinic	RCV000882202	SCV002541832	uncertain significance	not provided	2021-09-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003922459	SCV004755728	likely benign	PEX13-related condition	2022-02-03	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).