Submissions for variant NM_015102.5(NPHP4):c.2198G>A (p.Gly733Asp) (rs587783027)

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Total submissions: 5

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000731225	SCV000859012	uncertain significance	not provided	2017-12-28	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV001102422	SCV001259093	uncertain significance	Senior-Loken syndrome 4	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina	RCV001102423	SCV001259094	uncertain significance	Nephronophthisis 4	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae	RCV001203996	SCV001375182	uncertain significance	Nephronophthisis	2019-10-05	criteria provided, single submitter	clinical testing	This sequence change replaces glycine with aspartic acid at codon 733 of the NPHP4 protein (p.Gly733Asp). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs587783027, ExAC 0.1%). This variant has been observed in an individual affected with nephronopthisis (PMID: 26920127). This variant is also known as p.G221D. ClinVar contains an entry for this variant (Variation ID: 156399). 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: "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.
Molecular Diagnostics Laboratory,Seoul National University Hospital	RCV000144481	SCV000189616	uncertain significance	Leber congenital amaurosis	2014-09-18	no assertion criteria provided	clinical testing

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