ClinVar Miner

Submissions for variant NM_021267.5(CERS1):c.989G>T (p.Ser330Ile)

gnomAD frequency: 0.00004  dbSNP: rs376643753
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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 RCV000795450 SCV000934914 uncertain significance Progressive myoclonic epilepsy type 8 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces serine with isoleucine at codon 330 of the CERS1 protein (p.Ser330Ile). The serine residue is weakly conserved and there is a large physicochemical difference between serine and isoleucine. This variant is present in population databases (rs376643753, ExAC 0.005%). This variant has not been reported in the literature in individuals affected with CERS1-related conditions. 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. 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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