ClinVar Miner

Submissions for variant NM_014956.5(CEP164):c.4021G>C (p.Gly1341Arg)

gnomAD frequency: 0.00002  dbSNP: rs781132728
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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 RCV002045034 SCV002296668 uncertain significance Nephronophthisis 15 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 1341 of the CEP164 protein (p.Gly1341Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs781132728, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with CEP164-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV002642146 SCV003623140 uncertain significance Inborn genetic diseases 2022-05-25 criteria provided, single submitter clinical testing The c.4021G>C (p.G1341R) alteration is located in exon 30 (coding exon 28) of the CEP164 gene. This alteration results from a G to C substitution at nucleotide position 4021, causing the glycine (G) at amino acid position 1341 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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