ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2866G>A (p.Ala956Thr)

gnomAD frequency: 0.00003  dbSNP: rs774145857
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813751 SCV000954123 uncertain significance Peroxisome biogenesis disorder 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 956 of the PEX6 protein (p.Ala956Thr). This variant is present in population databases (rs774145857, gnomAD 0.004%). 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: 657186). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Baylor Genetics RCV001329778 SCV001521307 uncertain significance Peroxisome biogenesis disorder 4B 2019-05-17 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Natera, Inc. RCV001825632 SCV002077262 uncertain significance Zellweger spectrum disorders 2020-09-24 no assertion criteria provided clinical testing

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