ClinVar Miner

Submissions for variant NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter)

gnomAD frequency: 0.00002  dbSNP: rs765263671
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000702943 SCV000831820 pathogenic Nephronophthisis 2022-10-14 criteria provided, single submitter clinical testing This variant is present in population databases (rs765263671, gnomAD 0.009%). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 579607). This premature translational stop signal has been observed in individual(s) with nephronophthisis (PMID: 18076122). This sequence change creates a premature translational stop signal (p.Arg347*) in the NPHP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NPHP1 are known to be pathogenic (PMID: 23559409).
CeGaT Center for Human Genetics Tuebingen RCV001200637 SCV001371646 pathogenic not provided 2020-06-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507229 SCV002782119 pathogenic Joubert syndrome with renal defect; Nephronophthisis 1; Senior-Loken syndrome 1 2022-05-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV003472242 SCV004191354 pathogenic Joubert syndrome with renal defect 2024-02-29 criteria provided, single submitter clinical testing

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