ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.4034G>A (p.Gly1345Asp) (rs200407553)

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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 RCV000391142 SCV000345863 uncertain significance not provided 2017-03-28 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765244 SCV000896491 uncertain significance Nephronophthisis 4; Senior-Loken syndrome 4 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407270 SCV000358396 uncertain significance Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000312005 SCV000358397 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000312005 SCV000813174 uncertain significance Nephronophthisis 2018-06-23 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 1345 of the NPHP4 protein (p.Gly1345Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs200407553, ExAC 0.05%). This variant has not been reported in the literature in individuals with NPHP4-related disease. ClinVar contains an entry for this variant (Variation ID: 291157). 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: "Probably Damaging"; Align-GVGD: "Class C15"). 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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