ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.189G>T (p.Glu63Asp)

dbSNP: rs776773005
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000709577 SCV000839433 uncertain significance Familial colorectal cancer 2018-07-02 criteria provided, single submitter clinical testing
Mendelics RCV000990245 SCV001141125 uncertain significance Colorectal cancer, susceptibility to, 10 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000990245 SCV001486488 uncertain significance Colorectal cancer, susceptibility to, 10 2024-01-16 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 63 of the POLD1 protein (p.Glu63Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with breast cancer (PMID: 35264596). ClinVar contains an entry for this variant (Variation ID: 584986). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt POLD1 protein function with a negative predictive value of 80%. 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.
GeneDx RCV001551206 SCV001771666 uncertain significance not provided 2019-08-16 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; No data available from control populations to assess the frequency of this variant; Observed in at least one individual with either a personal or family history of cancer (Cabanillas 2017); This variant is associated with the following publications: (PMID: 28717660)

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