ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6508dup (p.Glu2170fs)

dbSNP: rs1567192623
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003965434 SCV004786972 pathogenic PKD1-related condition 2023-11-15 criteria provided, single submitter clinical testing The PKD1 c.6508dupG variant is predicted to result in a frameshift and premature protein termination (p.Glu2170Glyfs*5). This variant has been reported in an individual with cystic renal disease (Groopman et al. 2019. PubMed ID: 30586318, Table S7). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in PKD1 are expected to be pathogenic. This variant is interpreted as pathogenic.
Gharavi Laboratory, Columbia University RCV000681731 SCV000809186 likely pathogenic not provided 2018-09-16 no assertion criteria provided research

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