ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.1433G>A (p.Ser478Asn) (rs397514632)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000033142 SCV000488513 likely pathogenic Colorectal cancer 10 2016-06-10 criteria provided, single submitter clinical testing
Invitae RCV000033142 SCV000646484 pathogenic Colorectal cancer 10 2019-06-12 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 478 of the POLD1 protein (p.Ser478Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with colorectal cancer in different families. In one of these families, carriers of this variant were also affected with endometrial cancer and astrocytoma (PMID: 23263490). This variant has also been reported in additional unrelated individuals affected with colorectal cancer (PMID: 26344056, 25559809). ClinVar contains an entry for this variant (Variation ID: 40044). Experimental studies have shown that this missense change affects the proofreading activity of POLD1 protein (PMID: 23263490). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000033142 SCV000056924 risk factor Colorectal cancer 10 2015-08-01 no assertion criteria provided literature only

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