ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8302G>A (p.Val2768Met) (rs1456510041)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498112 SCV000589518 uncertain significance not provided 2018-05-29 criteria provided, single submitter clinical testing The V2768M variant in the PKD1 gene has been reported previously in association with autosomal dominant polycystic kidney disease, however one individual also had a second missense variant in the PKD1 gene (Rossetti et al., 2001; Trujillano et al., 2014). The V2768M variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The V2768M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. We interpret V2768M as a variant of uncertain significance.
Fulgent Genetics,Fulgent Genetics RCV000764034 SCV000894988 uncertain significance Polycystic kidney disease, adult type 2018-10-31 criteria provided, single submitter clinical testing
Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Research RCV000498112 SCV001422378 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing

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