ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.728G>A (p.Cys243Tyr) (rs911809758)

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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 RCV001001359 SCV001158557 uncertain significance not specified 2019-06-18 criteria provided, single submitter clinical testing The INSR c.728G>A; p.Cys243Tyr variant (rs911809758), to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The cysteine at codon 243 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. However, due to limited information, the clinical significance of the p.Cys243Tyr variant is uncertain at this time.

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