ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.678T>G (p.Ser226Arg)

gnomAD frequency: 0.00001  dbSNP: rs199924960
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001923764 SCV002192548 uncertain significance Nephronophthisis 15 2022-02-21 criteria provided, single submitter clinical testing 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. 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 disruptive. This variant has not been reported in the literature in individuals affected with CEP164-related conditions. This variant is present in population databases (rs199924960, gnomAD 0.1%). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 226 of the CEP164 protein (p.Ser226Arg).
Ambry Genetics RCV004044107 SCV004925821 uncertain significance Inborn genetic diseases 2023-11-27 criteria provided, single submitter clinical testing The c.678T>G (p.S226R) alteration is located in exon 7 (coding exon 5) of the CEP164 gene. This alteration results from a T to G substitution at nucleotide position 678, causing the serine (S) at amino acid position 226 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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