ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.132G>A (p.Met44Ile)

gnomAD frequency: 0.00002  dbSNP: rs757575448
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461195 SCV000547498 uncertain significance Colorectal cancer, susceptibility to, 10 2024-01-23 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 44 of the POLD1 protein (p.Met44Ile). This variant is present in population databases (rs757575448, gnomAD 0.006%). This missense change has been observed in individual(s) with colon cancer (PMID: 28125075). ClinVar contains an entry for this variant (Variation ID: 407954). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Mendelics RCV000461195 SCV001141124 uncertain significance Colorectal cancer, susceptibility to, 10 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001577011 SCV001804319 uncertain significance not provided 2023-06-05 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Observed in individuals with colon cancer (Ghazani et al., 2017); This variant is associated with the following publications: (PMID: 28125075)
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003493578 SCV004242967 uncertain significance not specified 2024-02-06 criteria provided, single submitter clinical testing

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