ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1018dup (p.Asp340fs)

dbSNP: rs762504554
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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 RCV001220533 SCV001392528 pathogenic Multiple gastrointestinal atresias 2022-12-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 949136). This variant has not been reported in the literature in individuals affected with TTC7A-related conditions. This variant is present in population databases (rs762504554, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Asp340Glyfs*45) 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).

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