Submissions for variant NM_015102.5(NPHP4):c.563C>T (p.Thr188Met) (rs200711763)

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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	RCV000729081	SCV000856718	uncertain significance	not provided	2018-05-15	criteria provided, single submitter	clinical testing
Invitae	RCV001036261	SCV001199614	uncertain significance	Nephronophthisis	2019-12-16	criteria provided, single submitter	clinical testing	This sequence change replaces threonine with methionine at codon 188 of the NPHP4 protein (p.Thr188Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs200711763, ExAC 0.03%). This variant has not been reported in the literature in individuals with NPHP4-related conditions. ClinVar contains an entry for this variant (Variation ID: 593910). 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 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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