ClinVar Miner

Submissions for variant NM_001127649.3(PEX26):c.153C>A (p.Phe51Leu) (rs777633990)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000391295 SCV000437326 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 RCV000678492 SCV000804559 uncertain significance not provided 2018-08-16 criteria provided, single submitter clinical testing The F51L variant in the PEX26 gene has been observed in the homozygous state in internal GeneDx clinical exome sequencing data in association with nonsyndromic hearing loss and has not been observed in the homozygous state in controls. The F51L variant is observed in 4/8706 (0.0459%) alleles from individuals of Ashkenazi Jewish background in large population cohorts (Lek et al., 2016). The F51L variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, we interpret F51L as a variant of uncertain significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000678492 SCV000857004 uncertain significance not provided 2017-09-18 criteria provided, single submitter clinical testing

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