ClinVar Miner

Submissions for variant NM_021267.5(CERS1):c.763C>T (p.Arg255Cys)

gnomAD frequency: 0.00001  dbSNP: rs1375601977
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986205 SCV001135129 likely pathogenic Progressive myoclonic epilepsy type 8 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000986205 SCV001488893 uncertain significance Progressive myoclonic epilepsy type 8 2022-01-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 255 of the CERS1 protein (p.Arg255Cys). This variant is present in population databases (no rsID available, gnomAD 0.001%). This missense change has been observed in individual(s) with progressive myoclonic epilepsy (PMID: 30800706). ClinVar contains an entry for this variant (Variation ID: 801420). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
OMIM RCV000986205 SCV002106394 pathogenic Progressive myoclonic epilepsy type 8 2022-03-18 no assertion criteria provided literature only

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