ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.2719G>A (p.Glu907Lys)

gnomAD frequency: 0.00001  dbSNP: rs1310354413
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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 RCV001372100 SCV001568701 uncertain significance Nephronophthisis 2022-07-19 criteria provided, single submitter clinical testing 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 907 of the NPHP4 protein (p.Glu907Lys). This variant has not been reported in the literature in individuals affected with NPHP4-related conditions. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1062389).
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001732145 SCV001984425 uncertain significance not specified 2019-12-26 criteria provided, single submitter clinical testing

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