ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.853C>T (p.Arg285Trp)

gnomAD frequency: 0.00009  dbSNP: rs201680615
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001304280 SCV001493553 uncertain significance Nephronophthisis 2023-07-21 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1007139). This variant has not been reported in the literature in individuals affected with NPHP4-related conditions. This variant is present in population databases (rs201680615, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 285 of the NPHP4 protein (p.Arg285Trp).
Ambry Genetics RCV004960720 SCV005464533 uncertain significance Inborn genetic diseases 2024-10-09 criteria provided, single submitter clinical testing The c.853C>T (p.R285W) alteration is located in exon 8 (coding exon 7) of the NPHP4 gene. This alteration results from a C to T substitution at nucleotide position 853, causing the arginine (R) at amino acid position 285 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005029888 SCV005656294 uncertain significance Nephronophthisis 4; Senior-Loken syndrome 4 2024-03-22 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815308 SCV005068992 uncertain significance Retinal dystrophy 2023-01-01 no assertion criteria provided clinical testing

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