ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2450_2462dup (p.His821fs)

dbSNP: rs1555792840
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457683 SCV000547569 uncertain significance Colorectal cancer, susceptibility to, 10 2016-06-14 criteria provided, single submitter clinical testing This sequence change inserts 13 nucleotide in exon 20 of the POLD1 mRNA (c.2450_2462dupGGCCCGACGCCCA), causing a frameshift at codon 821. This creates a premature translational stop signal (p.His821Glnfs*42) and is expected to result in an absent or disrupted protein product. For these reasons, this change has been classified as a Variant of Uncertain Significance While this particular variant has not been reported in the literature, truncating variants in POLD1 are not necessarily pathogenic (PMID: 26133394, 23263490), and the clinical significance of this variant is uncertain at this time.

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