ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.2368_2369insCGCC (p.Ser790fs)

dbSNP: rs2103674254
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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 RCV002030656 SCV002271309 likely pathogenic Multiple gastrointestinal atresias 2021-11-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser790Thrfs*16) in the TTC7A gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 69 amino acid(s) of the TTC7A protein. 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. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the C-terminus of the TTC7A protein. Other variant(s) that disrupt this region (p.Val833*, p.Q828*, p.E857* ) have been observed in individuals with TTC7A-related conditions (PMID: 24292712, 24931897, 25534311). This suggests that this may be a clinically significant region of the protein.

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