ClinVar Miner

Submissions for variant NM_212472.2(PRKAR1A):c.221G>A (p.Arg74His) (rs200069356)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000990054 SCV000287677 likely benign Carney complex, type 1 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000990054 SCV000405878 likely benign Carney complex, type 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000384218 SCV000405879 likely benign Acrodysostosis 1 with or without hormone resistance 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Ambry Genetics RCV000561393 SCV000674431 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-29 criteria provided, single submitter clinical testing Insufficient evidence
Integrated Genetics/Laboratory Corporation of America RCV000588205 SCV000698020 likely benign not provided 2016-11-10 criteria provided, single submitter clinical testing Variant summary: The PRKAR1A c.221G>A (p.Arg74His) variant causes a missense change involving a conserved nucleotide with 2/4 in silico tools (SNPs&GO not captured due to low reliability index) predict a benign outcome, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 43/121180 (1/2818), which significantly exceeds the estimated maximal expected allele frequency for a pathogenic PRKAR1A variant of 1/526315, suggesting this variant is likely a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications, although a clinical diagnostic laboratory cites the variant as "likely benign." Therefore, until additional information becomes available, the variant has been classified as "likely benign."
Mendelics RCV000990054 SCV001140822 uncertain significance Carney complex, type 1 2019-05-28 criteria provided, single submitter clinical testing

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