ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.2905T>A (p.Ser969Thr)

gnomAD frequency: 0.00001  dbSNP: rs762539833
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001953279 SCV002218389 uncertain significance Nephronophthisis 2022-08-05 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. This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 969 of the NPHP3 protein (p.Ser969Thr). This variant is present in population databases (rs762539833, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with NPHP3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1443025). 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").

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