ClinVar Miner

Submissions for variant NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro)

dbSNP: rs397517920
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041392 SCV000065086 likely pathogenic Rare genetic deafness 2012-12-28 criteria provided, single submitter clinical testing The Leu583Pro variant in EYA1 has been identified in two probands with clinical features of Branchio-oto-renal syndrome (BOR), was absent from 85 controls, and segregated with clinical features in one affected family member (Rickard 2000, L MM unpublished data). In addition, this residue is conserved across species, and computational analyses (biochemical amino acid properties, homology, PolyPhen2, SIFT) suggest that the variant may impact the protein. In summary, this variant is likely to be pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000763604 SCV000894450 likely pathogenic Branchiootic syndrome 1; Branchiootorenal syndrome 1; Otofaciocervical syndrome 1 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV002243687 SCV002512907 likely pathogenic not provided 2022-04-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23435380, 17637804, 24752894, 31049720, 10991693)
Yale Center for Mendelian Genomics, Yale University RCV001849294 SCV002106630 likely pathogenic Focal segmental glomerulosclerosis 2020-05-03 no assertion criteria provided literature only

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