ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.895G>A (p.Ala299Thr)

gnomAD frequency: 0.00010  dbSNP: rs371030713
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330745 SCV001522533 uncertain significance Peroxisome biogenesis disorder 6A (Zellweger) 2019-08-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV002546411 SCV003271952 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-08-22 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 319 of the PEX10 protein (p.Ala319Thr). This variant is present in population databases (rs371030713, gnomAD 0.07%). 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: 1029463). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.

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