ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.1006C>A (p.Gln336Lys)

dbSNP: rs1601204144
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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 RCV001016967 SCV001177980 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-03 criteria provided, single submitter clinical testing The p.Q336K variant (also known as c.1006C>A), located in coding exon 8 of the POLD1 gene, results from a C to A substitution at nucleotide position 1006. The glutamine at codon 336 is replaced by lysine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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