ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1072C>T (p.Arg358Ter)

dbSNP: rs1297794582
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000815999 SCV000956484 pathogenic Multiple gastrointestinal atresias 2023-11-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg358*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 659060). For these reasons, this variant has been classified as Pathogenic.

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