ClinVar Miner

Submissions for variant NM_001128178.3(NPHP1):c.1882C>T (p.Arg628Trp)

dbSNP: rs141686332
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001211948 SCV001383516 uncertain significance Nephronophthisis 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 684 of the NPHP1 protein (p.Arg684Trp). This variant is present in population databases (rs141686332, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with NPHP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 942042). 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: "Deleterious"; PolyPhen-2: "Probably 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 RCV002491649 SCV002792891 uncertain significance Joubert syndrome with renal defect; Nephronophthisis 1; Senior-Loken syndrome 1 2021-08-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004734050 SCV005359457 uncertain significance NPHP1-related disorder 2024-08-26 no assertion criteria provided clinical testing The NPHP1 c.2050C>T variant is predicted to result in the amino acid substitution p.Arg684Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0035% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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