ClinVar Miner

Submissions for variant NM_002734.5(PRKAR1A):c.912A>G (p.Gln304=)

gnomAD frequency: 0.00002  dbSNP: rs200223045
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001018901 SCV001180195 likely benign Hereditary cancer-predisposing syndrome 2018-06-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV001055943 SCV001220358 likely benign Carney complex, type 1 2023-08-08 criteria provided, single submitter clinical testing

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