ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.1028G>A (p.Arg343Gln)

gnomAD frequency: 0.00001  dbSNP: rs782089459
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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 RCV001939303 SCV002225189 uncertain significance Joubert syndrome 15 2022-07-14 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 343 of the CEP41 protein (p.Arg343Gln). This variant is present in population databases (rs782089459, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with CEP41-related conditions. ClinVar contains an entry for this variant (Variation ID: 1441591). 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: "Tolerated"; PolyPhen-2: "Possibly 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 RCV004043160 SCV004925527 uncertain significance Inborn genetic diseases 2023-12-01 criteria provided, single submitter clinical testing The c.1028G>A (p.R343Q) alteration is located in exon 11 (coding exon 11) of the CEP41 gene. This alteration results from a G to A substitution at nucleotide position 1028, causing the arginine (R) at amino acid position 343 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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