ClinVar Miner

Submissions for variant NM_018718.3(CEP41):c.1087A>G (p.Ser363Gly)

gnomAD frequency: 0.00001  dbSNP: rs201504407
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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 RCV001314529 SCV001505065 uncertain significance Joubert syndrome 15 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 363 of the CEP41 protein (p.Ser363Gly). This variant is present in population databases (rs201504407, gnomAD 0.03%). 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: 1015643). 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.
Baylor Genetics RCV001314529 SCV001529841 uncertain significance Joubert syndrome 15 2018-07-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV001314529 SCV002780206 uncertain significance Joubert syndrome 15 2021-07-22 criteria provided, single submitter clinical testing

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