ClinVar Miner

Submissions for variant NM_000503.6(EYA1):c.65G>A (p.Gly22Asp)

gnomAD frequency: 0.00005  dbSNP: rs727503049
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Total submissions: 3
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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 RCV000150678 SCV000198035 uncertain significance not specified 2013-10-06 criteria provided, single submitter clinical testing The Gly22Asp variant in EYA1 has not been reported in individuals with hearing l oss or in large population studies. Computational analyses (biochemical amino ac id properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Gl y22Asp variant may not impact the protein, though this information is not predic tive enough to rule out pathogenicity. In summary, additional data is needed to determine the clinical significance of this variant.
Fulgent Genetics, Fulgent Genetics RCV002505146 SCV002816970 uncertain significance Branchiootic syndrome 1; Branchiootorenal syndrome 1; Otofaciocervical syndrome 1 2022-01-12 criteria provided, single submitter clinical testing
Invitae RCV003593920 SCV004283155 benign Melnick-Fraser syndrome 2023-11-07 criteria provided, single submitter clinical testing

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