ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.-1G>A

gnomAD frequency: 0.00001  dbSNP: rs1312876547
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566996 SCV000671101 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-29 criteria provided, single submitter clinical testing The c.-1G>A variant is located in the 5' untranslated region (5’ UTR) of the POLD1 gene. This variant results from a G to A substitution one nucleotide upstream from the first translated codon. This nucleotide position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759224 SCV000888445 uncertain significance not provided 2018-05-22 criteria provided, single submitter clinical testing

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