ClinVar Miner

Submissions for variant NM_002734.4(PRKAR1A):c.770-9G>T (rs562094333)

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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 RCV000781765 SCV000920082 benign not specified 2017-12-15 criteria provided, single submitter clinical testing Variant summary: The PRKAR1A c.770-9G>T variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts the loss of a SC35 binding site. However, these predictions have yet to be confirmed by functional studies. This variant was found in 269/246052 control chromosomes (6 homozygotes)(gnomAD) at a frequency of 0.0010933, which is approximately 583 times the estimated maximal expected allele frequency of a pathogenic PRKAR1A variant (0.0000019), suggesting this variant is likely a benign polymorphism. In addition, one reputable clinical diagnostic laboratory classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Invitae RCV000464699 SCV000556801 benign Carney complex, type 1 2017-12-11 criteria provided, single submitter clinical testing

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