ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.2470dup (p.Gln824fs)

dbSNP: rs768053395
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000633666 SCV000754927 pathogenic Multiple gastrointestinal atresias 2021-03-12 criteria provided, single submitter clinical testing A missense variant downstream of this codon (p.Ala832Thr) has been reported as homozygous in two siblings affected with severe apoptotic enterocolitis and determined to be likely pathogenic (PMID: 24417819). This suggests that disruption of amino acid sequence downstream of codon 824 is likely pathogenic. For these reasons, this variant has been classified as Pathogenic. This variant has been observed in an individual with clinical features of gastrointestinal defects and immunodeficiency syndrome (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs768053395, ExAC 0.002%). This sequence change results in a premature translational stop signal in the TTC7A gene (p.Gln824Profs*11). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 35 amino acids of the TTC7A protein.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV002291284 SCV002583828 uncertain significance not provided 2022-08-12 criteria provided, single submitter clinical testing PM2

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