ClinVar Miner

Submissions for variant NM_002734.4(PRKAR1A):c.1029C>T (p.Gly343=) (rs1803241)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573447 SCV000674436 likely benign Hereditary cancer-predisposing syndrome 2017-06-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000251184 SCV000345380 benign not specified 2016-09-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586200 SCV000698019 benign not provided 2017-02-02 criteria provided, single submitter clinical testing Variant summary: The PRKAR1A c.1029C>T (p.Gly343Gly) 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. 3/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 82/121404 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.007688 (80/10406). This frequency is about 4100 times the estimated maximal expected allele frequency of a pathogenic PRKAR1A variant (0.0000019), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Invitae RCV000228808 SCV000287675 benign Carney complex, type 1 2018-01-11 criteria provided, single submitter clinical testing
PreventionGenetics RCV000251184 SCV000309153 benign not specified criteria provided, single submitter clinical testing

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