ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.192del (p.Phe64fs)

dbSNP: rs1476031758
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001383525 SCV001582676 pathogenic Multiple gastrointestinal atresias 2020-09-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TTC7A are known to be pathogenic (PMID: 23830146, 24292712). This variant has not been reported in the literature in individuals with TTC7A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Phe64Leufs*15) in the TTC7A gene. It is expected to result in an absent or disrupted protein product.
Fulgent Genetics, Fulgent Genetics RCV002488204 SCV002786276 likely pathogenic Gastrointestinal defects and immunodeficiency syndrome 1 2022-04-13 criteria provided, single submitter clinical testing

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