ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14332G>T (p.Ala4778Ser)

dbSNP: rs727504637
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Total submissions: 1
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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 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.

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