ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.2323C>T (p.Arg775Trp)

gnomAD frequency: 0.00005  dbSNP: rs768582000
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732040 SCV000859916 uncertain significance not provided 2018-02-22 criteria provided, single submitter clinical testing
Invitae RCV000794236 SCV000933630 uncertain significance Nephronophthisis 2022-08-08 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 775 of the NPHP4 protein (p.Arg775Trp). This variant is present in population databases (rs768582000, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with NPHP4-related conditions. ClinVar contains an entry for this variant (Variation ID: 596273). 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294373 SCV002587745 uncertain significance Kidney disorder 2017-05-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493342 SCV002787481 uncertain significance Nephronophthisis 4; Senior-Loken syndrome 4 2022-02-07 criteria provided, single submitter clinical testing

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