Submissions for variant NM_000287.4(PEX6):c.235G>A (p.Ala79Thr)

dbSNP: rs61752141

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000978017	SCV001125941	likely benign	Peroxisome biogenesis disorder	2025-01-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001163759	SCV001325829	uncertain significance	Peroxisome biogenesis disorder 4A (Zellweger)	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics	RCV002550544	SCV003700472	uncertain significance	Inborn genetic diseases	2020-12-24	criteria provided, single submitter	clinical testing	The c.235G>A (p.A79T) alteration is located in exon 1 (coding exon 1) of the PEX6 gene. This alteration results from a G to A substitution at nucleotide position 235, causing the alanine (A) at amino acid position 79 to be replaced by a threonine (T). The p.A79T alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV004553515	SCV004782403	likely benign	PEX6-related disorder	2023-04-26	no assertion criteria provided	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).