ClinVar Miner

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

gnomAD frequency: 0.00006  dbSNP: rs200821373
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001046237 SCV001210131 uncertain significance Nephronophthisis 2024-10-26 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 769 of the NPHP4 protein (p.His769Leu). This variant is present in population databases (rs200821373, gnomAD 0.03%). This missense change has been observed in individual(s) with clinical features of NPHP4-related conditions (PMID: 36474027). ClinVar contains an entry for this variant (Variation ID: 497253). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Daryl Scott Lab, Baylor College of Medicine RCV002245030 SCV002515361 uncertain significance Senior-Loken syndrome 4 2022-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000596129 SCV005186969 uncertain significance not provided criteria provided, single submitter not provided

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