Submissions for variant NM_015102.5(NPHP4):c.4267G>A (p.Val1423Ile)

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Minimum conflict level: Report conflict between different conditions
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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001046166	SCV001210056	uncertain significance	Nephronophthisis	2021-02-22	criteria provided, single submitter	clinical testing	This sequence change replaces valine with isoleucine at codon 1423 of the NPHP4 protein (p.Val1423Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. 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. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NPHP4-related conditions.
Fulgent Genetics, Fulgent Genetics	RCV005029606	SCV005649032	uncertain significance	Nephronophthisis 4; Senior-Loken syndrome 4	2024-06-01	criteria provided, single submitter	clinical testing

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