ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.1379C>G (p.Pro460Arg)

dbSNP: rs1574500050
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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 RCV001811590 SCV001158326 uncertain significance not provided 2019-09-11 criteria provided, single submitter clinical testing The BMPR2 c.1379C>G; p.Pro460Arg variant, 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 proline at codon 460 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.Pro460Arg variant is uncertain at this time.

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