ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.2939C>T (p.Thr980Met) (rs199645515)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000400326 SCV000343307 uncertain significance not provided 2016-06-21 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791067 SCV000930337 uncertain significance not specified 2019-04-27 criteria provided, single submitter clinical testing
Invitae RCV001037539 SCV001200958 uncertain significance Nephronophthisis 2019-12-31 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 980 of the NPHP4 protein (p.Thr980Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs199645515, ExAC 0.02%). This variant has not been reported in the literature in individuals with NPHP4-related conditions. ClinVar contains an entry for this variant (Variation ID: 289035). 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"). 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.

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