ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.2195C>T (p.Ser732Leu)

gnomAD frequency: 0.00017  dbSNP: rs559070007
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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 RCV001235555 SCV001408246 uncertain significance Nephronophthisis 15 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 732 of the CEP164 protein (p.Ser732Leu). This variant is present in population databases (rs559070007, gnomAD 0.03%). 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: 961797). 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) performed at Invitae indicates that this missense variant is not expected to disrupt 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 RCV001235555 SCV002783637 uncertain significance Nephronophthisis 15 2021-12-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002563828 SCV003730094 uncertain significance Inborn genetic diseases 2021-06-18 criteria provided, single submitter clinical testing The c.2195C>T (p.S732L) alteration is located in exon 17 (coding exon 15) of the CEP164 gene. This alteration results from a C to T substitution at nucleotide position 2195, causing the serine (S) at amino acid position 732 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004753244 SCV005366494 uncertain significance CEP164-related disorder 2024-09-03 no assertion criteria provided clinical testing The CEP164 c.2195C>T variant is predicted to result in the amino acid substitution p.Ser732Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.024% of alleles in individuals of African 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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