ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5255T>G (p.Leu1752Trp) (rs1469348824)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002428 SCV001160365 uncertain significance not specified 2019-03-18 criteria provided, single submitter clinical testing The USH2A c.5255T>G; p.Leu1752Trp variant (rs1469348824), to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is also absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The amino acid at this position is moderately conserved and computational algorithms (PolyPhen-2, SIFT) predict this variant is deleterious. Due to limited information, the clinical significance of this variant is uncertain at this time.

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