ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.1040A>G (p.Asn347Ser)

gnomAD frequency: 0.00003  dbSNP: rs782131552
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001205893 SCV001377174 uncertain significance Joubert syndrome 15 2022-10-27 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 347 of the CEP41 protein (p.Asn347Ser). This variant is present in population databases (rs782131552, gnomAD 0.01%). 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: 936966). 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.
Ambry Genetics RCV002561202 SCV003760884 uncertain significance Inborn genetic diseases 2022-10-26 criteria provided, single submitter clinical testing The c.1040A>G (p.N347S) alteration is located in exon 11 (coding exon 11) of the CEP41 gene. This alteration results from a A to G substitution at nucleotide position 1040, causing the asparagine (N) at amino acid position 347 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004695164 SCV005195662 uncertain significance not provided criteria provided, single submitter not provided

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