ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12165del (p.Trp4056fs)

dbSNP: rs1596474136
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001009082 SCV001168892 likely pathogenic not provided 2020-01-30 criteria provided, single submitter clinical testing Frameshift variant in the C-terminus predicted to result in protein truncation, as the last 248 amino acids are lost and replaced with 141 incorrect amino acids (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

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