ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2916del (p.Ile973fs)

dbSNP: rs1555793339
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575260 SCV000671197 uncertain significance Hereditary cancer-predisposing syndrome 2017-02-27 criteria provided, single submitter clinical testing The c.2916delC variant, located in coding exon 22 of the POLD1 gene, results from a deletion of one nucleotide at nucleotide position 2916, causing a translational frameshift with a predicted alternate stop codon (p.I973Sfs*72). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of POLD1 has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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