ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3287T>C (p.Leu1096Pro)

gnomAD frequency: 0.00001  dbSNP: rs777276873
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000681679 SCV002003816 uncertain significance not provided 2021-04-16 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31589614)
Fulgent Genetics, Fulgent Genetics RCV005027836 SCV005663552 likely pathogenic Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2024-06-22 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000681679 SCV000809126 likely pathogenic not provided 2018-09-16 no assertion criteria provided research

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