ClinVar Miner

Submissions for variant NM_001128178.3(NPHP1):c.1402G>A (p.Glu468Lys)

gnomAD frequency: 0.00001  dbSNP: rs1186755904
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002028983 SCV002296631 uncertain significance Nephronophthisis 2022-09-06 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1504682). This variant has not been reported in the literature in individuals affected with NPHP1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 524 of the NPHP1 protein (p.Glu524Lys).
Fulgent Genetics, Fulgent Genetics RCV002479747 SCV002781238 uncertain significance Joubert syndrome with renal defect; Nephronophthisis 1; Senior-Loken syndrome 1 2022-04-22 criteria provided, single submitter clinical testing

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