ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1081A>G (p.Thr361Ala)

gnomAD frequency: 0.00016  dbSNP: rs146025917
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000515094 SCV000609748 uncertain significance not provided 2017-04-28 criteria provided, single submitter clinical testing
Invitae RCV001865687 SCV002168175 uncertain significance Peroxisome biogenesis disorder 2022-10-03 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 361 of the PEX6 protein (p.Thr361Ala). This variant is present in population databases (rs146025917, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with PEX6-related conditions. ClinVar contains an entry for this variant (Variation ID: 445406). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PEX6 protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002481656 SCV002791572 uncertain significance Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B; Heimler syndrome 2 2021-12-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276736 SCV001463264 uncertain significance Zellweger spectrum disorders 2019-10-28 no assertion criteria provided clinical testing

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