ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.3704G>A (p.Arg1235His)

gnomAD frequency: 0.00001  dbSNP: rs569553635
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001035867 SCV001199206 uncertain significance Nephronophthisis 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1235 of the NPHP4 protein (p.Arg1235His). This variant is present in population databases (rs569553635, gnomAD 0.02%). 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: 835062). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt NPHP4 protein function. 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.
Blueprint Genetics RCV001075230 SCV001240844 uncertain significance Retinal dystrophy 2017-03-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481852 SCV002791125 uncertain significance Nephronophthisis 4; Senior-Loken syndrome 4 2022-03-16 criteria provided, single submitter clinical testing

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