ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1784_1787del (p.Glu595fs)

gnomAD frequency: 0.00004  dbSNP: rs1300446486
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001963241 SCV002246707 pathogenic Multiple gastrointestinal atresias 2023-10-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu595Alafs*7) in the TTC7A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TTC7A are known to be pathogenic (PMID: 23830146, 24292712). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TTC7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1460133). For these reasons, this variant has been classified as Pathogenic.

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