ClinVar Miner

Submissions for variant NM_015450.3(POT1):c.1338G>A (p.Pro446=)

gnomAD frequency: 0.00010  dbSNP: rs185651210
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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 RCV000554053 SCV000655138 likely benign Tumor predisposition syndrome 3 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572351 SCV000674393 likely benign Hereditary cancer-predisposing syndrome 2017-07-20 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002476195 SCV002773922 benign not specified 2021-08-25 criteria provided, single submitter clinical testing

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