ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.2206C>T (p.Arg736Cys)

gnomAD frequency: 0.00007  dbSNP: rs372959036
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001979282 SCV002251480 uncertain significance Nephronophthisis 2022-04-07 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 736 of the NPHP4 protein (p.Arg736Cys). This variant is present in population databases (rs372959036, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with NPHP4-related conditions. 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: "Benign"; 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294496 SCV002587751 uncertain significance Kidney disorder 2016-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002564449 SCV003536679 uncertain significance Inborn genetic diseases 2022-02-10 criteria provided, single submitter clinical testing The c.2206C>T (p.R736C) alteration is located in exon 17 (coding exon 16) of the NPHP4 gene. This alteration results from a C to T substitution at nucleotide position 2206, causing the arginine (R) at amino acid position 736 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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