Submissions for variant NM_000503.6(EYA1):c.647C>G (p.Pro216Arg)

dbSNP: rs200923204

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000825340	SCV000966635	uncertain significance	not specified	2018-05-21	criteria provided, single submitter	clinical testing	The p.Pro216Arg variant in EYA1 has not been previously reported in individuals with hearing loss or Branchio-oto-renal syndrome (BOR) and was absent from large population studies. Another variant of uncertain significance at the same resi due (p.Pro216Leu) has been reported in an individual with ureteropelvic junction obstruction, but no additional features of BOR (Hoskins 2008, Hwang 2014). Co mputational prediction tools and conservation analysis do not provide strong sup port for or against an impact to the protein. In summary, the clinical significa nce of the p.Pro216Arg variant is uncertain. ACMG/AMP Criteria applied: PM2.
Labcorp Genetics (formerly Invitae), Labcorp	RCV005092466	SCV001119430	likely benign	Melnick-Fraser syndrome	2025-01-17	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV005049714	SCV005679077	uncertain significance	Branchiootic syndrome 1; Branchiootorenal syndrome 1; Otofaciocervical syndrome 1	2024-02-19	criteria provided, single submitter	clinical testing