ClinVar Miner

Submissions for variant NM_153818.1(PEX10):c.275G>A (p.Arg92His) (rs375649043)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000320556 SCV000355618 uncertain significance Peroxisome biogenesis disorder 6A 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Counsyl RCV000669741 SCV000794520 uncertain significance Peroxisome biogenesis disorder 6A; Peroxisome biogenesis disorder 6B 2017-10-03 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000669741 SCV000894769 uncertain significance Peroxisome biogenesis disorder 6A; Peroxisome biogenesis disorder 6B 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001243663 SCV001416836 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2019-11-04 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 92 of the PEX10 protein (p.Arg92His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs375649043, ExAC 0.01%). This variant has not been reported in the literature in individuals with PEX10-related conditions. ClinVar contains an entry for this variant (Variation ID: 296283). 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.

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