ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.1284C>T (p.Ala428=)

dbSNP: rs1555228629
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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 RCV005000201 SCV001598384 likely benign not provided 2024-12-29 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV005000201 SCV005625185 uncertain significance not provided 2024-01-04 criteria provided, single submitter clinical testing The POLE c.1284C>T (p.Ala428=) synonymous variant has not been reported in the germline state in individuals with POLE-related conditions. This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect POLE mRNA splicing. Based on the available information, we are unable to determine the clinical significance of this variant.

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