ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.587A>G (p.His196Arg) (rs1564837944)

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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 RCV000757702 SCV000886024 uncertain significance not provided 2018-02-05 criteria provided, single submitter clinical testing The PTEN c.587A>G; p.His196Arg variant, to our knowledge, is not reported in the medical literature or gene specific variant databases. This variant is also absent from the general population databases (1000 Genomes Project, Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The histidine at codon 196 is moderately conserved but computational algorithms (SIFT, PolyPhen2) predict this variant to be benign. However, given the lack of clinical and functional data, the significance of p.His196Arg is uncertain at this time.

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