ClinVar Miner

Submissions for variant NM_021267.5(CERS1):c.787G>A (p.Val263Ile)

gnomAD frequency: 0.00065  dbSNP: rs200539084
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000537513 SCV000655569 uncertain significance Progressive myoclonic epilepsy type 8 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 263 of the CERS1 protein (p.Val263Ile). This variant is present in population databases (rs200539084, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with CERS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 475376). 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 CERS1 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001507431 SCV001712976 uncertain significance not provided 2020-07-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024316 SCV003683240 uncertain significance not specified 2021-09-27 criteria provided, single submitter clinical testing The c.787G>A (p.V263I) alteration is located in exon 5 (coding exon 5) of the CERS1 gene. This alteration results from a G to A substitution at nucleotide position 787, causing the valine (V) at amino acid position 263 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000537513 SCV003831605 uncertain significance Progressive myoclonic epilepsy type 8 2022-01-12 criteria provided, single submitter clinical testing

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