ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2772C>T (p.Tyr924=)

gnomAD frequency: 0.00004  dbSNP: rs867074778
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698327 SCV000534489 likely benign not provided 2020-03-07 criteria provided, single submitter clinical testing
Invitae RCV000464517 SCV000558673 likely benign Colorectal cancer, susceptibility to, 10 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000574065 SCV000671036 likely benign Hereditary cancer-predisposing syndrome 2015-07-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002282145 SCV002570725 likely benign not specified 2022-07-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003899894 SCV004716941 likely benign POLD1-related condition 2021-05-09 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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