ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.4330C>G (p.Leu1444Val)

gnomAD frequency: 0.00009  dbSNP: rs143919649
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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 RCV001055918 SCV001220333 uncertain significance Nephronophthisis 15 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1444 of the CEP164 protein (p.Leu1444Val). This variant is present in population databases (rs143919649, gnomAD 0.02%). 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: 851508). 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.
Fulgent Genetics, Fulgent Genetics RCV001055918 SCV002791512 uncertain significance Nephronophthisis 15 2024-02-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004753190 SCV005347970 uncertain significance CEP164-related disorder 2024-08-28 no assertion criteria provided clinical testing The CEP164 c.4330C>G variant is predicted to result in the amino acid substitution p.Leu1444Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.021% of alleles in individuals of European (Non-Finnish) descent in gnomAD. 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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