ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.469del (p.Arg157fs)

dbSNP: rs1569138023
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318690 SCV000849979 pathogenic Inborn genetic diseases 2016-05-03 criteria provided, single submitter clinical testing The c.469delC pathogenic mutation, located in coding exon 6 of the TCF4 gene, results from a deletion of one nucleotide at position 469, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Eurofins Ntd Llc (ga) RCV000734489 SCV000862637 pathogenic not provided 2018-08-16 criteria provided, single submitter clinical testing
Mendelics RCV000990105 SCV001140902 pathogenic Pitt-Hopkins syndrome 2019-05-28 criteria provided, single submitter clinical testing

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