ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.548T>A (p.Met183Lys)

gnomAD frequency: 0.00067  dbSNP: rs144206271
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694786 SCV000823246 uncertain significance Nephronophthisis 15 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with lysine, which is basic and polar, at codon 183 of the CEP164 protein (p.Met183Lys). This variant is present in population databases (rs144206271, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. 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: 573184). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV000694786 SCV002812152 uncertain significance Nephronophthisis 15 2022-02-03 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV000694786 SCV001749614 not provided Nephronophthisis 15 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 08-21-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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