ClinVar Miner

Submissions for variant NM_004813.4(PEX16):c.760G>C (p.Val254Leu)

gnomAD frequency: 0.01652  dbSNP: rs35214605
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000294744 SCV000372059 benign Peroxisome biogenesis disorder 8A (Zellweger) 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000549075 SCV000638111 benign Peroxisome biogenesis disorder 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000676059 SCV001813398 likely benign not provided 2021-04-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000676059 SCV005224243 likely benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000676059 SCV000801793 likely benign not provided 2017-10-03 no assertion criteria provided clinical testing
GenomeConnect, ClinGen RCV000845059 SCV000986900 not provided Peroxisome biogenesis disorder 8A (Zellweger); Peroxisome biogenesis disorder 8B no assertion provided phenotyping only Variant interpretted as Likely benign and reported on 10/30/2014 by GTR ID 320384. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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