ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.5559C>T (p.Ile1853=)

gnomAD frequency: 0.00001  dbSNP: rs1032264693
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001697415 SCV000653375 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571362 SCV000671388 likely benign Hereditary cancer-predisposing syndrome 2016-12-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
GeneDx RCV001697415 SCV000721427 likely benign not provided 2020-02-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000601946 SCV001737773 likely benign not specified 2021-06-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476191 SCV002802975 likely benign Colorectal cancer, susceptibility to, 12; Facial dysmorphism-immunodeficiency-livedo-short stature syndrome; Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 2022-05-31 criteria provided, single submitter clinical testing

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