ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.2855A>G (p.Asn952Ser)

gnomAD frequency: 0.00057  dbSNP: rs554483416
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001350121 SCV001544499 uncertain significance not provided 2022-10-04 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 952 of the CPLANE1 protein (p.Asn952Ser). This variant is present in population databases (rs554483416, gnomAD 0.1%). 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: 569892). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CPLANE1 protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
GeneDx RCV001350121 SCV001788606 uncertain significance not provided 2021-06-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000690636 SCV002797010 uncertain significance Orofaciodigital syndrome type 6; Joubert syndrome 17 2022-05-10 criteria provided, single submitter clinical testing

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