ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12070C>T (p.Pro4024Ser) (rs771494407)

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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 RCV001001345 SCV001158539 uncertain significance Polycystic kidney disease, adult type 2019-06-07 criteria provided, single submitter clinical testing The PKD1 c.12070C>T; p.Pro4024Ser variant (rs771494407), to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is found on two chromosomes (2/246798 alleles) in the Genome Aggregation Database, indicating it is not a common polymorphism. The proline at codon 4024 is moderately conserved, and computational analyses (SIFT: tolerated, PolyPhen-2: damaging) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Pro4024Ser variant is uncertain at this time.

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