ClinVar Miner

Submissions for variant NM_021267.5(CERS1):c.74G>A (p.Arg25His)

dbSNP: rs2056617983
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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 RCV001343651 SCV001537650 uncertain significance Progressive myoclonic epilepsy type 8 2020-01-18 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces arginine with histidine at codon 25 of the CERS1 protein (p.Arg25His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant has not been reported in the literature in individuals with CERS1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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