ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.34G>A (p.Val12Met) (rs201713171)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000592522 SCV000702487 uncertain significance not provided 2017-07-18 criteria provided, single submitter clinical testing
Invitae RCV001225572 SCV001397855 uncertain significance Nephronophthisis 2019-09-10 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 12 of the NPHP4 protein (p.Val12Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs201713171, ExAC 0.07%). This variant has not been reported in the literature in individuals with NPHP4-related conditions. ClinVar contains an entry for this variant (Variation ID: 497779). 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: "Tolerated"; PolyPhen-2: "Possibly 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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