ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.973A>G (p.Ile325Val)

gnomAD frequency: 0.00005  dbSNP: rs558345043
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000464281 SCV000547510 uncertain significance Colorectal cancer, susceptibility to, 10 2025-01-20 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 325 of the POLD1 protein (p.Ile325Val). This variant is present in population databases (rs558345043, gnomAD 0.03%). This missense change has been observed in individual(s) with breast cancer (PMID: 32792570). ClinVar contains an entry for this variant (Variation ID: 407965). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 RCV000565563 SCV000671132 likely benign Hereditary cancer-predisposing syndrome 2024-10-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001547140 SCV001766775 uncertain significance not provided 2023-11-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Observed in an individual with breast cancer (PMID: 32792570); This variant is associated with the following publications: (PMID: 20951805, 32792570)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001547140 SCV002046784 uncertain significance not provided 2021-03-26 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000565563 SCV002534719 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-21 criteria provided, single submitter curation
Baylor Genetics RCV000464281 SCV005056514 uncertain significance Colorectal cancer, susceptibility to, 10 2024-03-20 criteria provided, single submitter clinical testing

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