ClinVar Miner

Submissions for variant NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu)

dbSNP: rs121907922
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000327291 SCV000225770 pathogenic not provided 2015-01-15 criteria provided, single submitter clinical testing
GeneDx RCV000327291 SCV000329453 pathogenic not provided 2021-12-27 criteria provided, single submitter clinical testing Normal stop codon changed to a Leucine codon, leading to the addition of 14 amino acids at the C-terminus; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 18494745, 20132240, 28321846, 21850189, 25555363, 22204637, 16098226, 6330922, 18494744, 16199712, 22361317, 28698011, 18241071, 10477494, 11309364, 26661695, 12552561, 27431685, 29618921, 29367200, 32360764, 33594928, 27535533, 34101622, 33726816, 32467297)
Fulgent Genetics, Fulgent Genetics RCV000762838 SCV000893197 pathogenic Aniridia 1; Foveal hypoplasia 1; Coloboma of optic nerve; Autosomal dominant keratitis; Isolated optic nerve hypoplasia; Irido-corneo-trabecular dysgenesis; 11p partial monosomy syndrome; Congenital ocular coloboma 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000805010 SCV000944952 pathogenic Aniridia 1; Irido-corneo-trabecular dysgenesis 2023-11-24 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the PAX6 mRNA. It is expected to extend the length of the PAX6 protein by 14 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This protein extension has been observed in individual(s) with aniridia (PMID: 11309364, 12552561, 27431685, 28321846, 29618921). In at least one individual the variant was observed to be de novo. It has also been observed to segregate with disease in related individuals. This variant is also known as c.1290 A>T and X437L. ClinVar contains an entry for this variant (Variation ID: 3474). For these reasons, this variant has been classified as Pathogenic.
Wessex Regional Genetics Laboratory, Salisbury District Hospital RCV000003642 SCV001055829 pathogenic Aniridia 1 2019-08-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000327291 SCV001247619 pathogenic not provided 2024-01-01 criteria provided, single submitter clinical testing PAX6: PP1:Strong, PM2, PM4, PS4:Moderate, PM6:Supporting, PP4
Institute of Human Genetics, University of Leipzig Medical Center RCV000003642 SCV001440513 uncertain significance Aniridia 1 2019-01-01 criteria provided, single submitter clinical testing
Clinical Genetics and Genomics, Karolinska University Hospital RCV000327291 SCV001450012 likely pathogenic not provided 2018-03-15 criteria provided, single submitter clinical testing
OMIM RCV000003642 SCV000023805 pathogenic Aniridia 1 2003-02-01 no assertion criteria provided literature only
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics RCV000003642 SCV000584165 pathogenic Aniridia 1 no assertion criteria provided research
Clinical Genetics and Genomics, Karolinska University Hospital RCV000785745 SCV000924312 likely pathogenic Hypertelorism; Visual impairment; Nystagmus 2018-03-29 flagged submission clinical testing

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