ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.15501G>A (p.Met5167Ile)

dbSNP: rs397518001
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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 RCV000041789 SCV000065485 likely benign not specified 2011-08-02 criteria provided, single submitter clinical testing Met5167Ile in exon 71 of USH2A: This variant is not expected to have clinical si gnificance because computational analyses (PolyPhen2, SIFT, AlignGVGD) do not su ggest a high likelihood of clinical significance primarily based upon lack of co nservation across species. Of note, chicken has an isoleucine at this position.

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