ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2299_2306delinsTCTG (p.Thr767fs)

dbSNP: rs1064796287
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485397 SCV000572854 pathogenic not provided 2022-02-01 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002496875 SCV002787236 likely pathogenic Polycystic kidney disease 4 2021-09-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003409665 SCV004113499 pathogenic PKHD1-related condition 2023-02-15 criteria provided, single submitter clinical testing The PKHD1 c.2299_2306delinsTCTG variant is predicted to result in a frameshift and premature protein termination (p.Thr767Serfs*9). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in PKHD1 are expected to be pathogenic. This variant is interpreted as pathogenic.
Baylor Genetics RCV002496875 SCV004204633 likely pathogenic Polycystic kidney disease 4 2023-06-13 criteria provided, single submitter clinical testing

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