ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7321G>A (p.Gly2441Ser) (rs376618983)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989452 SCV001139782 uncertain significance Polycystic kidney disease, adult type 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000989452 SCV001157473 uncertain significance Polycystic kidney disease, adult type 2019-06-09 criteria provided, single submitter clinical testing The PKD1 c.7321G>A; p.Gly2441Ser variant (rs376618983), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the Ashkenazi Jewish population with an allele frequency of 0.10% (10/9976 alleles) in the Genome Aggregation Database. The glycine at codon 2441 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Gly2441Ser variant is uncertain at this time.

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