ClinVar Miner

Submissions for variant NM_021267.5(CERS1):c.701G>T (p.Arg234Leu)

dbSNP: rs369297915
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001307385 SCV001496796 uncertain significance Progressive myoclonic epilepsy type 8 2022-02-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 234 of the CERS1 protein (p.Arg234Leu). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1009837). This variant has not been reported in the literature in individuals affected with CERS1-related conditions.

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