ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.847C>T (p.Gln283Ter)

dbSNP: rs1601202330
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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 RCV001017879 SCV001179042 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-06 criteria provided, single submitter clinical testing The p.Q283* variant (also known as c.847C>T), located in coding exon 7 of the POLD1 gene, results from a C to T substitution at nucleotide position 847. This changes the amino acid from a glutamine to a stop codon within coding exon 7. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, loss of function via haploinsufficiency in 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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