ClinVar Miner

Submissions for variant NM_002734.5(PRKAR1A):c.1A>G (p.Met1Val)

dbSNP: rs281864779
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523178 SCV000616832 pathogenic not provided 2019-04-25 criteria provided, single submitter clinical testing This variant is thought to lead to an alternate start codon downstream of the original start codon, and decrease binding of the PRKAR1A protein (Kirschner et al., 2000; Salpa et al., 2014); Initiation codon variant in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 22471738, 20850710, 24012779, 20829611, 11115848, 19915019, 27377598, 22112814, 21115159, 20358582, 16464939, 18241045, 29390296, 29237939, 29909407)
Labcorp Genetics (formerly Invitae), Labcorp RCV000013505 SCV005838537 pathogenic Carney complex, type 1 2024-10-30 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the PRKAR1A mRNA. The next in-frame methionine is located at codon 47. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individual(s) with PRKAR1A-related conditions (PMID: 11115848, 19915019, 29909407). It has also been observed to segregate with disease in related individuals. This variant is also known as 88A>G. ClinVar contains an entry for this variant (Variation ID: 12669). Algorithms developed to predict the effect of variants on gene product structure and function are not available or were not evaluated for this variant. Experimental studies have shown that disruption of the initiator codon affects PRKAR1A function (PMID: 19915019). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000013505 SCV000033752 pathogenic Carney complex, type 1 2000-12-12 no assertion criteria provided literature only
GeneReviews RCV000013505 SCV000058231 not provided Carney complex, type 1 no assertion provided literature only

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