ClinVar Miner

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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