ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1486+4G>C

gnomAD frequency: 0.00003  dbSNP: rs201274415
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000603538 SCV000730149 likely benign not specified 2017-03-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002311960 SCV000846126 uncertain significance Inborn genetic diseases 2017-03-21 criteria provided, single submitter clinical testing The c.1486+4G>C intronic variant results from a G to C substitution 4 nucleotides after coding exon 15 in the TCF4 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 donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000936285 SCV001082050 benign Pitt-Hopkins syndrome 2022-11-14 criteria provided, single submitter clinical testing

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