ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.886A>G (p.Ile296Val) (rs761613436)

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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 RCV001001616 SCV001159067 uncertain significance not specified 2018-12-19 criteria provided, single submitter clinical testing The SLC26A4 c.886A>G; p.Ile296Val variant (rs761613436), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found on a single chromosome in the Genome Aggregation Database, indicating it is not a common polymorphism. The isoleucine at codon 296 is moderately conserved, but computational analyses (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Ile296Val variant is uncertain at this time.

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