ClinVar Miner

Submissions for variant NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr)

gnomAD frequency: 0.00121  dbSNP: rs114250691
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000363080 SCV000342456 uncertain significance not provided 2017-10-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765499 SCV000896800 uncertain significance Joubert syndrome with renal defect; Nephronophthisis 1; Senior-Loken syndrome 1 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084490 SCV001000789 likely benign Nephronophthisis 2025-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000363080 SCV001875174 uncertain significance not provided 2025-01-20 criteria provided, single submitter clinical testing 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
PreventionGenetics, part of Exact Sciences RCV004535410 SCV004730665 likely benign NPHP1-related disorder 2022-02-03 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816513 SCV005070247 uncertain significance Retinal dystrophy 2023-01-01 no assertion criteria provided clinical testing

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