ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.434_437del (p.Glu145fs)

dbSNP: rs763300393
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175991 SCV000227571 pathogenic not provided 2014-09-16 criteria provided, single submitter clinical testing
Molecular Biology Laboratory, Fundació Puigvert RCV001281248 SCV001425120 pathogenic Nephronophthisis 3 2020-02-01 criteria provided, single submitter research
Invitae RCV001852163 SCV002241361 pathogenic Nephronophthisis 2023-12-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu145Valfs*3) in the NPHP3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NPHP3 are known to be pathogenic (PMID: 18371931, 23559409). This variant is present in population databases (rs763300393, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with clinical features of nephronophthisis (PMID: 23188109). ClinVar contains an entry for this variant (Variation ID: 195423). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000175991 SCV002552616 pathogenic not provided 2022-07-11 criteria provided, single submitter clinical testing Reported in published literature as a positive result for a patient undergoing exome sequencing, but further clinical information was not provided (Farwell et al., 2015); 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 at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31589614, 25356970, 23188109)
Fulgent Genetics, Fulgent Genetics RCV002500482 SCV002810844 pathogenic Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2021-12-23 criteria provided, single submitter clinical testing

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