ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.2306A>T (p.His769Leu) (rs200821373)

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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 RCV000596129 SCV000701663 uncertain significance not provided 2018-02-03 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765252 SCV000896500 uncertain significance Nephronophthisis 4; Senior-Loken syndrome 4 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001046237 SCV001210131 uncertain significance Nephronophthisis 2020-01-02 criteria provided, single submitter clinical testing This sequence change replaces histidine with leucine at codon 769 of the NPHP4 protein (p.His769Leu). The histidine residue is moderately conserved and there is a moderate physicochemical difference between histidine and leucine. This variant is present in population databases (rs200821373, ExAC 0.03%). This variant has not been reported in the literature in individuals with NPHP4-related conditions. ClinVar contains an entry for this variant (Variation ID: 497253). 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.

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