ClinVar Miner

Submissions for variant NM_021267.5(CERS1):c.71_72delinsCC (p.Gln24Pro)

dbSNP: rs2146084865
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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 RCV001362273 SCV001558282 uncertain significance Progressive myoclonic epilepsy type 8 2022-10-13 criteria provided, single submitter clinical testing 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 1053870). This variant has not been reported in the literature in individuals affected with CERS1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 24 of the CERS1 protein (p.Gln24Pro).

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