ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.3373C>T (p.Arg1125Trp)

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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 RCV002953531 SCV003275262 uncertain significance Nephronophthisis 15 2023-07-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1125 of the CEP164 protein (p.Arg1125Trp). This variant is present in population databases (rs372830445, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with CEP164-related conditions. ClinVar contains an entry for this variant (Variation ID: 2064586). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CEP164 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.
Revvity Omics, Revvity RCV002953531 SCV003831575 uncertain significance Nephronophthisis 15 2021-01-09 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV002953531 SCV004805418 uncertain significance Nephronophthisis 15 2024-03-25 criteria provided, single submitter research
Ambry Genetics RCV004068026 SCV004925804 uncertain significance Inborn genetic diseases 2024-03-07 criteria provided, single submitter clinical testing The c.3373C>T (p.R1125W) alteration is located in exon 27 (coding exon 25) of the CEP164 gene. This alteration results from a C to T substitution at nucleotide position 3373, causing the arginine (R) at amino acid position 1125 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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