ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.5770G>A (p.Gly1924Ser) (rs199947459)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756515 SCV000884349 likely benign not provided 2017-12-07 criteria provided, single submitter clinical testing The PKD1 c.5770G>A, p.Gly1924Ser variant (rs199947459) has not been reported in the medical literature, nor listed in gene-specific variant databases. It is observed in the East Asian population of general population databases at a frequency of 0.1 percent in the 1000 Genomes Project (1/1008 alleles), and 0.19 percent in the Genome Aggregation Database (36/18582 alleles). The glycine at position 1924 is weakly conserved (Alamut v2.10), and computational algorithms (Align GVGD, Mutation Taster, PolyPhen-2, SIFT) predict that the variant has no impact on PKD1 protein structure or function. Based on the above information, and its co-occurrence with a truncating variant in an individual tested at ARUP Laboratories, the p.Gly1924Ser variant is considered likely benign.
Athena Diagnostics Inc RCV001289131 SCV001476744 benign not specified 2020-07-15 criteria provided, single submitter clinical testing

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