ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9582C>T (p.Ala3194=) (rs1399957695)

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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 RCV000756514 SCV000884347 likely benign not provided 2018-02-22 criteria provided, single submitter clinical testing The PKD1 c.9582C>T; p.Ala3194Ala variant, to our knowledge, is not reported in the medical literature or in gene-specific databases. This variant is also absent from the general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This variant is a synonymous substitution and computational algorithms (Alamut v.2.10) predict that the variant has no impact on splicing. Based on the above information, this variant is considered likely benign.

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