ClinVar Miner

Submissions for variant NM_021267.5(CERS1):c.305G>A (p.Ser102Asn)

gnomAD frequency: 0.00001  dbSNP: rs748527035
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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 RCV002003202 SCV002276906 uncertain significance Progressive myoclonic epilepsy type 8 2022-09-12 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1483570). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 102 of the CERS1 protein (p.Ser102Asn). This variant is present in population databases (rs748527035, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with CERS1-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CERS1 protein function. 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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