ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.436C>T (p.Arg146Cys)

gnomAD frequency: 0.00001  dbSNP: rs1184194956
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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 RCV001037878 SCV001201313 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-10-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 146 of the PEX10 protein (p.Arg146Cys). This variant is present in population databases (no rsID available, gnomAD 0.009%). 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: 836691). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. RCV001832384 SCV002094132 uncertain significance Zellweger spectrum disorders 2020-12-23 no assertion criteria provided clinical testing

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