ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.37G>A (p.Val13Met)

gnomAD frequency: 0.00001  dbSNP: rs760884573
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000460088 SCV000547512 uncertain significance Colorectal cancer, susceptibility to, 10 2024-01-27 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 13 of the POLD1 protein (p.Val13Met). This variant is present in population databases (rs760884573, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with POLD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 407967). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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