ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.424C>T (p.Arg142Ter)

gnomAD frequency: 0.00001  dbSNP: rs771742823
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002527119 SCV003525669 pathogenic Nephronophthisis 2023-11-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg142*) 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 (rs771742823, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with nephronophthisis (PMID: 27491411, 32502767). ClinVar contains an entry for this variant (Variation ID: 430726). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Human Molecular Genetics and Metabolic Disorders, Pakistan Institute for Engineering and Applied Science (PIEAS) RCV000579387 SCV000583476 pathogenic Nephronophthisis 3 no assertion criteria provided research

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