ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.779C>A (p.Ala260Asp)

gnomAD frequency: 0.00002  dbSNP: rs747171383
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001043280 SCV001207007 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with aspartic acid at codon 280 of the PEX10 protein (p.Ala280Asp). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and aspartic acid. This variant is present in population databases (rs747171383, ExAC 0.005%). 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.
Natera, Inc. RCV001272154 SCV001453849 uncertain significance Zellweger spectrum disorders 2020-01-17 no assertion criteria provided clinical testing

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