ClinVar Miner

Submissions for variant NM_001128178.3(NPHP1):c.1837C>T (p.Arg613Cys)

gnomAD frequency: 0.00001  dbSNP: rs543675502
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594594 SCV000706684 uncertain significance not provided 2017-02-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000638091 SCV000759571 uncertain significance Nephronophthisis 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 669 of the NPHP1 protein (p.Arg669Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs543675502, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with NPHP1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002483628 SCV002790763 uncertain significance Joubert syndrome with renal defect; Nephronophthisis 1; Senior-Loken syndrome 1 2022-01-25 criteria provided, single submitter clinical testing

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