ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.757-5T>C

gnomAD frequency: 0.00001  dbSNP: rs1442154422
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001858576 SCV002242093 likely benign RASopathy 2021-06-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390912 SCV002672958 uncertain significance Cardiovascular phenotype 2019-12-30 criteria provided, single submitter clinical testing The c.757-5T>C intronic variant results from a T to C substitution 5 nucleotides upstream from coding exon 7 in the PTPN11 gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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