ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8993C>G (p.Ser2998Cys) (rs559922535)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152588 SCV000201858 likely benign not specified 2013-11-06 criteria provided, single submitter clinical testing Ser2998Cys in Exon 45 of USH2A: This variant is not expected to have clinical si gnificance because the serine (Ser) residue at position 2998 is poorly conserved across species, with hedgehog, wallaby, and opossum having a cysteine (Cys) at this position. In addition, computational analyses (SIFT, PolyPhen2, and AlignGV GD) suggest that the variant may not impact the protein.
Counsyl RCV000671038 SCV000795977 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-11-26 criteria provided, single submitter clinical testing

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