ClinVar Miner

Submissions for variant NM_002317.7(LOX):c.476C>A (p.Pro159Gln) (rs41407546)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513728 SCV000610112 likely benign not provided 2017-08-10 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000513728 SCV000697912 benign not provided 2017-07-14 criteria provided, single submitter clinical testing Variant summary: The LOX c.476C>A (p.Pro159Gln) variant involves the alteration of a non-conserved nucleotide. 2/3 in silico tools predict a damaging outcome for this variant (SNPsandGO not captured due to low reliability index), however in silico prediction results are not definitive. This variant was found in 659/118824 control chromosomes (4 homozygotes) from ExAC at a frequency of 0.005546, which is approximately 333 times the estimated maximal expected allele frequency of a pathogenic LOX variant (0.0000167), suggesting this variant is likely a benign polymorphism. It has been reported as a polymorphism in literature (De Bonis_2011). Taken together, this variant is classified as benign.
Invitae RCV000513728 SCV001119414 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000350 SCV001157084 benign Aortic aneurysm, familial thoracic 10 2019-03-24 criteria provided, single submitter clinical testing

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