ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.4G>T (p.Ala2Ser)

dbSNP: rs770336711
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001965408 SCV002220655 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-02-02 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 2 of the PEX10 protein (p.Ala2Ser). This variant is present in population databases (rs770336711, gnomAD 0.07%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with PEX10-related conditions. 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.
Revvity Omics, Revvity RCV003134275 SCV003814841 uncertain significance not provided 2021-01-09 criteria provided, single submitter clinical testing

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