Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155898 | SCV000205609 | likely benign | not specified | 2013-08-10 | criteria provided, single submitter | clinical testing | Ala4778Ser in Exon 65 of USH2A: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, guinea pig has a serine (Ser) at this position. In addition, computational analyses (PolyPhen2, SIFT, AlignGVGD) do not suggest a high likelihood of impact to the protein. Furthermore, a different amion acid change (Ala4778Asp) is seen at this position in 2.7% (118/4406) of African American chromosomes by the NHLB I Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs113447586 ) suggesting that changes at this position may be tolerated. |