ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.5453C>T (p.Ala1818Val) (rs746910149)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518272 SCV000614508 uncertain significance not specified 2017-01-17 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092714 SCV001249350 likely benign not provided 2020-01-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001262469 SCV001440363 likely benign Polycystic kidney disease, adult type 2019-01-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001262469 SCV001474392 uncertain significance Polycystic kidney disease, adult type 2019-08-29 criteria provided, single submitter clinical testing The PKD1 c.5453C>T; p.Ala1818Val variant (rs746910149), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 447988). This variant is found in the Ashkenazi Jewish population with an allele frequency of 0.17% (17/9844 alleles) in the Genome Aggregation Database. The alanine at codon 1818 is highly conserved, but computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Ala1818Val variant is uncertain at this time.

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