ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.88G>A (p.Ala30Thr)

gnomAD frequency: 0.00001  dbSNP: rs1187572016
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594860 SCV000707423 uncertain significance not provided 2017-03-30 criteria provided, single submitter clinical testing
Invitae RCV001316327 SCV001506943 uncertain significance Nephronophthisis 2022-08-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with NPHP4-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 30 of the NPHP4 protein (p.Ala30Thr). ClinVar contains an entry for this variant (Variation ID: 501168). 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. 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: "Probably Damaging"; Align-GVGD: "Class C0").

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