ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.1227A>G (p.Pro409=)

dbSNP: rs552835784
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001289996 SCV001603278 likely benign Tumor predisposition syndrome 3 2025-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002375332 SCV002667706 likely benign Hereditary cancer-predisposing syndrome 2019-06-27 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.
GeneReviews RCV001289996 SCV001478029 not provided Tumor predisposition syndrome 3 no assertion provided literature only A 3.6-fold increase risk for Chronic Lymphocytic Lleukemia reported for individuals with this variant

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