ClinVar Miner

Submissions for variant NM_000272.4(NPHP1):c.1333C>T (p.Arg445Cys) (rs375907280)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000729703 SCV000857389 uncertain significance not provided 2017-10-06 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765498 SCV000896799 uncertain significance Joubert syndrome 4; Nephronophthisis 1; Senior-Loken syndrome 1 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000289524 SCV000415890 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346804 SCV000415891 uncertain significance Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394876 SCV000415892 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000394876 SCV000835368 uncertain significance Nephronophthisis 2018-07-17 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 445 of the NPHP1 protein (p.Arg445Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs375907280, ExAC 0.03%). This variant has not been reported in the literature in individuals with NPHP1-related disease. ClinVar contains an entry for this variant (Variation ID: 330732). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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.

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