ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.431G>C (p.Trp144Ser)

dbSNP: rs760785367
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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 RCV002532172 SCV003447204 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-07-11 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 144 of the PEX10 protein (p.Trp144Ser). This variant is present in population databases (rs760785367, gnomAD 0.03%). 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: 559057). 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: "Tolerated"; PolyPhen-2: "Possibly 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000676043 SCV000801777 uncertain significance not provided 2017-07-26 no assertion criteria provided clinical testing

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