ClinVar Miner

Submissions for variant NM_002734.5(PRKAR1A):c.63C>T (p.Tyr21=)

gnomAD frequency: 0.00001  dbSNP: rs777110464
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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 RCV000527135 SCV000646299 benign Carney complex, type 1 2023-12-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571388 SCV000674447 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.
Sema4, Sema4 RCV000571388 SCV002534739 benign Hereditary cancer-predisposing syndrome 2021-06-03 criteria provided, single submitter curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003114669 SCV003800918 benign not specified 2023-01-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905412 SCV004721662 likely benign PRKAR1A-related disorder 2023-01-19 no assertion criteria provided 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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