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: 3
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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].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546411 SCV003271952 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2024-10-15 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). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
PreventionGenetics, part of Exact Sciences RCV004751958 SCV005352838 uncertain significance PEX10-related disorder 2024-05-17 no assertion criteria provided clinical testing The PEX10 c.955G>A variant is predicted to result in the amino acid substitution p.Ala319Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.075% of alleles in individuals of East Asian descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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