Submissions for variant NM_002734.5(PRKAR1A):c.535C>T (p.Gln179Ter)

dbSNP: rs141913727

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000429583	SCV000517443	pathogenic	not provided	2015-06-04	criteria provided, single submitter	clinical testing	The Q179X nonsense variant in the PRKAR1A gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been reported previously to our knowledge, we consider it to be pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001222838	SCV001394958	pathogenic	Carney complex, type 1	2021-11-12	criteria provided, single submitter	clinical testing	This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 379923). This variant has not been reported in the literature in individuals affected with PRKAR1A-related conditions. This sequence change creates a premature translational stop signal (p.Gln179*) 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).
GenomeConnect, ClinGen	RCV000509168	SCV000606879	not provided	Carney complex		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.