ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2832C>G (p.Phe944Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003213760 SCV003912712 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-18 criteria provided, single submitter clinical testing The p.F944L variant (also known as c.2832C>G), located in coding exon 22 of the POLD1 gene, results from a C to G substitution at nucleotide position 2832. The phenylalanine at codon 944 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005021859 SCV005650320 uncertain significance Colorectal cancer, susceptibility to, 10; Mandibular hypoplasia-deafness-progeroid syndrome; Immunodeficiency 120 2024-04-13 criteria provided, single submitter clinical testing

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