ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9199C>T (p.Pro3067Ser) (rs1211697062)

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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 RCV000756532 SCV000884367 uncertain significance not provided 2018-06-22 criteria provided, single submitter clinical testing The PKD1 c.9199C>T; p.Pro3067Ser variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The proline at codon 3067 is highly conserved, but computational analyses (SIFT: tolerated, PolyPhen-2: probably damaging) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Pro3067Ser variant is uncertain at this time.

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