ClinVar Miner

Submissions for variant NM_001127649.3(PEX26):c.200A>G (p.Asn67Ser) (rs201884779)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726167 SCV000342571 uncertain significance not provided 2017-09-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000338698 SCV000437328 uncertain significance Peroxisome biogenesis disorder 7A 2018-01-13 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.
GeneDx RCV000726167 SCV000583142 uncertain significance not provided 2017-05-25 criteria provided, single submitter clinical testing The N67S variant in the PEX26 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is observed in 75/25,018 alleles (0.3%) from individuals of non-Finnish European background in the ExAC dataset, with no homozygous control individuals reported (Lek et al., 2016). The N67S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Additionally, this substitution occurs at a position that is not conserved across species, and in silico analysis predicts this variant likely does not alter the protein structure/function. As there is not enough information currently available to determine if this variant is pathogenic or benign, we interpret N67S as a variant of uncertain significance.
Fulgent Genetics,Fulgent Genetics RCV000765604 SCV000896927 uncertain significance Peroxisome biogenesis disorder 7A; Peroxisome biogenesis disorder 7B 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000765604 SCV001107521 likely benign Peroxisome biogenesis disorder 7A; Peroxisome biogenesis disorder 7B 2019-12-31 criteria provided, single submitter clinical testing

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