ClinVar Miner

Submissions for variant NM_016122.3(CEP83):c.479C>T (p.Ser160Leu)

gnomAD frequency: 0.00001  dbSNP: rs747045010
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701269 SCV000830061 uncertain significance Nephronophthisis 18 2022-07-06 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 578304). This variant has not been reported in the literature in individuals affected with CEP83-related conditions. This variant is present in population databases (rs747045010, gnomAD 0.002%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 160 of the CEP83 protein (p.Ser160Leu).

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