ClinVar Miner

Submissions for variant NM_002734.5(PRKAR1A):c.491_492del (p.Val164fs)

dbSNP: rs281864790
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414608 SCV000490739 pathogenic not provided 2016-08-01 criteria provided, single submitter clinical testing The c.491_492delTG pathogenic variant in the PRKAR1A gene has been reported previously in association with Carney complex (Kirschner et al., 2000; Bertherat et al., 2009; Guo et al., 2015). The deletion causes a frameshift starting with codon Valine 164, changes this amino acid to a Aspartic Acid residue and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Val164AspfsX5. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense mediated mRNA decay. Therefore, we interpret this variant as pathogenic.
Invitae RCV000013498 SCV001234247 pathogenic Carney complex, type 1 2021-10-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val164Aspfs*5) in the PRKAR1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PRKAR1A are known to be pathogenic (PMID: 11115848, 19293268). This variant is not present in population databases (ExAC no frequency). This premature translational stop signal has been observed in individual(s) with Carney complex (PMID: 10973256, 24088910, 25890363). In at least one individual the variant was observed to be de novo. It has also been observed to segregate with disease in related individuals. This variant is also known as 578delTG. ClinVar contains an entry for this variant (Variation ID: 12662). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000013498 SCV000033745 pathogenic Carney complex, type 1 2000-09-01 no assertion criteria provided literature only
GeneReviews RCV000013498 SCV000058234 pathologic Carney complex, type 1 2012-09-20 no assertion criteria provided curation Converted during submission to Pathogenic.

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