Submissions for variant NM_138694.4(PKHD1):c.10856del (p.Lys3619fs)

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Total submissions: 5

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000667303	SCV000791734	pathogenic	Autosomal recessive polycystic kidney disease	2017-07-20	criteria provided, single submitter	clinical testing
Invitae	RCV000667303	SCV001587250	pathogenic	Autosomal recessive polycystic kidney disease	2021-10-14	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 552098). This premature translational stop signal has been observed in individual(s) with polycystic kidney disease (PMID: 12846734, 19021639). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys3619Serfs*7) in the PKHD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839).
Baylor Genetics	RCV003459584	SCV004204599	pathogenic	Polycystic kidney disease 4	2023-07-31	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000667303	SCV004804166	pathogenic	Autosomal recessive polycystic kidney disease	2024-01-04	criteria provided, single submitter	clinical testing	Variant summary: PKHD1 c.10856delA (p.Lys3619SerfsX7) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 250964 control chromosomes (gnomAD). c.10856delA has been reported in the literature in individuals affected with Polycystic Kidney And Hepatic Disease (example: Rossetti_2003). The following publication has been ascertained in the context of this evaluation (PMID: 12846734). Four submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Natera, Inc.	RCV000667303	SCV002075499	pathogenic	Autosomal recessive polycystic kidney disease	2021-03-25	no assertion criteria provided	clinical testing

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