ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.10027C>T (p.Leu3343Phe) (rs1158465434)

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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 RCV000756518 SCV000884352 uncertain significance not provided 2017-05-10 criteria provided, single submitter clinical testing The PKD1 c.10027C>T, p.Leu3343Phe variant has not been reported in the medical literature, nor listed in gene-specific variant databases. It has been observed in the Genome Aggregation Database general population database (2/197894 alleles), but considered a low confidence variant. The leucine at residue 3343 is highly conserved, but computational algorithms (Align GVGD: C15; Mutation Taster: disease-causing; PolyPhen-2: probably damaging; SIFT: tolerated) are inconclusive on the variant's impact on the protein. Due to the limited information regarding this variant, its clinical significance could not be determined with certainty.

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