ClinVar Miner

Submissions for variant NM_002734.4(PRKAR1A):c.178-8T>G (rs771192586)

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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 RCV000780648 SCV000918095 likely benign not specified 2017-11-20 criteria provided, single submitter clinical testing Variant summary: The PRKAR1A c.178-8T>G variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. 3/5 splice prediction tools predict significant weakening effect on a canonical splicing donor site. However, these predictions have yet to be confirmed by functional studies. This variant was found in 16/276908 control chromosomes at a frequency of 0.0000578, which is approximately 31 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 likely benign unitl additional information becomes available.
Invitae RCV000645605 SCV000767355 likely benign Carney complex, type 1 2017-12-20 criteria provided, single submitter clinical testing

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