ClinVar Miner

Submissions for variant NM_002734.5(PRKAR1A):c.237G>A (p.Glu79=)

gnomAD frequency: 0.00009  dbSNP: rs1197286957
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000868311 SCV001009623 likely benign Carney complex, type 1 2024-01-19 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256567 SCV002534730 likely benign Hereditary cancer-predisposing syndrome 2021-12-26 criteria provided, single submitter curation
Ambry Genetics RCV002256567 SCV002735937 likely benign Hereditary cancer-predisposing syndrome 2022-02-27 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.
PreventionGenetics, part of Exact Sciences RCV003918401 SCV004732539 likely benign PRKAR1A-related condition 2021-02-18 criteria provided, single submitter 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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