ClinVar Miner

Submissions for variant NM_021267.5(CERS1):c.550G>T (p.Val184Leu)

dbSNP: rs374308521
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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 RCV000548766 SCV000655567 uncertain significance Progressive myoclonic epilepsy type 8 2018-02-08 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 184 of the CERS1 protein (p.Val184Leu). The valine residue is moderately conserved and there is a small physicochemical difference between valine and leucine. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CERS1-related disease. ClinVar contains an entry for this variant (Variation ID: 475374). This variant is present in population databases (rs374308521, ExAC 0.002%).

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