ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.553C>G (p.Gln185Glu)

dbSNP: rs782587361
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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 RCV001302249 SCV001491448 uncertain significance Joubert syndrome 15 2022-10-13 criteria provided, single submitter clinical testing 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 CEP41 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. ClinVar contains an entry for this variant (Variation ID: 1005387). This variant has not been reported in the literature in individuals affected with CEP41-related conditions. This variant is present in population databases (rs782587361, gnomAD 0.0009%). This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 185 of the CEP41 protein (p.Gln185Glu).
Ambry Genetics RCV003166701 SCV003884574 uncertain significance Inborn genetic diseases 2023-01-10 criteria provided, single submitter clinical testing The c.553C>G (p.Q185E) alteration is located in exon 7 (coding exon 7) of the CEP41 gene. This alteration results from a C to G substitution at nucleotide position 553, causing the glutamine (Q) at amino acid position 185 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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