ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.1050C>T (p.Ala350=)

gnomAD frequency: 0.00001  dbSNP: rs1199499328
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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 RCV000526124 SCV000655116 likely benign Tumor predisposition syndrome 3 2025-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001017133 SCV001178165 likely benign Hereditary cancer-predisposing syndrome 2019-04-22 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.
Genetic Services Laboratory, University of Chicago RCV001821621 SCV002066766 likely benign not specified 2021-01-08 criteria provided, single submitter clinical testing

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