ClinVar Miner

Submissions for variant NM_021267.5(CERS1):c.821C>T (p.Thr274Met)

gnomAD frequency: 0.00004  dbSNP: rs769809173
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001339481 SCV001533228 uncertain significance Progressive myoclonic epilepsy type 8 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 274 of the CERS1 protein (p.Thr274Met). This variant is present in population databases (rs769809173, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with CERS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1036463). 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: "Tolerated"; PolyPhen-2: "Possibly 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.
Ambry Genetics RCV004035900 SCV003722015 uncertain significance not specified 2021-06-18 criteria provided, single submitter clinical testing The c.821C>T (p.T274M) alteration is located in exon 5 (coding exon 5) of the CERS1 gene. This alteration results from a C to T substitution at nucleotide position 821, causing the threonine (T) at amino acid position 274 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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