ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.2470C>T (p.Gln824Ter)

dbSNP: rs1057516047
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV000408605 SCV000484448 pathogenic Multiple gastrointestinal atresias 2015-09-17 criteria provided, single submitter clinical testing This substitution is predicted to result in a premature stop codon at amino acid position 824, NP_065191.2: p.(Gln824*). In-silico software (MutationTaster) predicts this variant to be disease-causing. This is a novel variant, not previously reported in disease or population databases. It was identified in a homozygous state in an infant with multiple intestinal atresias. Both parents were confirmed to be carriers.

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