ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.3404G>A (p.Arg1135His)

gnomAD frequency: 0.00001  dbSNP: rs763251283
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591533 SCV000709555 uncertain significance not provided 2017-06-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001860223 SCV002226084 uncertain significance Nephronophthisis 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 1135 of the NPHP4 protein (p.Arg1135His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs763251283, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with NPHP4-related conditions. ClinVar contains an entry for this variant (Variation ID: 502708). 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 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.
Fulgent Genetics, Fulgent Genetics RCV002483662 SCV002783478 uncertain significance Nephronophthisis 4; Senior-Loken syndrome 4 2024-05-17 criteria provided, single submitter clinical testing

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