ClinVar Miner

Submissions for variant NM_021267.5(CERS1):c.158C>G (p.Ala53Gly)

dbSNP: rs2056615240
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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 RCV001978347 SCV002272492 uncertain significance Progressive myoclonic epilepsy type 8 2020-11-28 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 alanine with glycine at codon 53 of the CERS1 protein (p.Ala53Gly). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and glycine. 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: "Probably 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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