ClinVar Miner

Submissions for variant NM_002734.4(PRKAR1A):c.477C>T (p.Ile159=) (rs372389205)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000590096 SCV000698024 uncertain significance not provided 2017-02-02 criteria provided, single submitter clinical testing Variant summary: The PRKAR1A c.477C>T (p.Ile159Ile) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict the slight enhancement of a cryptic splice acceptor site. However, these predictions have yet to be confirmed by functional studies. This variant was found in 1/121402 control chromosomes at a frequency of 0.0000082, which is approximately 4 times the estimated maximal expected allele frequency of a pathogenic PRKAR1A variant (0.0000019), suggesting this variant is likely a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000546400 SCV000646292 likely benign Carney complex, type 1 2017-04-05 criteria provided, single submitter clinical testing

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