ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.6158T>A (p.Phe2053Tyr)

gnomAD frequency: 0.00007  dbSNP: rs189493985
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000417648 SCV000536314 uncertain significance not provided 2019-09-05 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000417648 SCV001571127 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with tyrosine, which is neutral and polar, at codon 2053 of the CPLANE1 protein (p.Phe2053Tyr). This variant is present in population databases (rs189493985, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CPLANE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 392966). 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 CPLANE1 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.
Fulgent Genetics, Fulgent Genetics RCV000706312 SCV002790188 uncertain significance Orofaciodigital syndrome type 6; Joubert syndrome 17 2021-12-08 criteria provided, single submitter clinical testing

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