ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.537G>T (p.Gly179=)

gnomAD frequency: 0.00001  dbSNP: rs756483178
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692874 SCV000820721 likely benign Colorectal cancer, susceptibility to, 10 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343468 SCV002646973 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-13 criteria provided, single submitter clinical testing The c.537G>T variant (also known as p.G179G), located in coding exon 4 of the POLD1 gene, results from a G to T substitution at nucleotide position 537. This nucleotide substitution does not change grantham residue at codon 179. This nucleotide position is poorly conserved in available vertebrate species. Using three different splice site prediction tools, this alteration is predicted by ESEfinder and Human Splicing Finder (HSF) to create a new alternate splice donor site, but BDGP does not predict the creation of a non-native donor site, nor a deleterious effect on splicing; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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