ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.4145G>A (p.Gly1382Glu) (rs773368924)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177474 SCV000229335 uncertain significance not provided 2017-05-23 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765243 SCV000896490 uncertain significance Nephronophthisis 4; Senior-Loken syndrome 4 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000822808 SCV000963625 uncertain significance Nephronophthisis 2019-10-30 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 1382 of the NPHP4 protein (p.Gly1382Glu). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is present in population databases (rs773368924, ExAC 0.07%). This variant has not been reported in the literature in individuals with NPHP4-related disease. ClinVar contains an entry for this variant (Variation ID: 196631). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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