ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.796AAG[1] (p.Lys267del)

dbSNP: rs764638875
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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 RCV001039964 SCV001203516 uncertain significance Nephronophthisis 15 2022-09-02 criteria provided, single submitter clinical testing This variant, c.799_801del, results in the deletion of 1 amino acid(s) of the CEP164 protein (p.Lys267del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs764638875, gnomAD 0.06%). 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: 838418). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV004792646 SCV005412487 uncertain significance not provided 2024-07-08 criteria provided, single submitter clinical testing PM4
Fulgent Genetics, Fulgent Genetics RCV001039964 SCV005680748 uncertain significance Nephronophthisis 15 2024-06-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004753168 SCV005344545 uncertain significance CEP164-related disorder 2024-07-22 no assertion criteria provided clinical testing The CEP164 c.799_801delAAG variant is predicted to result in an in-frame deletion (p.Lys267del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.058% of alleles in individuals of Latino descent in gnomAD, including one homozygote. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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