ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.1873A>G (p.Ile625Val)

gnomAD frequency: 0.00006  dbSNP: rs745831184
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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 RCV001326513 SCV001517545 uncertain significance Nephronophthisis 2022-07-12 criteria provided, single submitter clinical testing This variant is present in population databases (rs745831184, gnomAD 0.007%). 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: "Benign"; Align-GVGD: "Class C25"). ClinVar contains an entry for this variant (Variation ID: 1026108). This variant has not been reported in the literature in individuals affected with NPHP3-related conditions. This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 625 of the NPHP3 protein (p.Ile625Val).
Fulgent Genetics, Fulgent Genetics RCV002486314 SCV002789714 uncertain significance Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2022-01-09 criteria provided, single submitter clinical testing

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