ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.2495C>T (p.Ala832Val)

gnomAD frequency: 0.00001  dbSNP: rs755985958
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV001027861 SCV001190496 likely pathogenic Multiple gastrointestinal atresias 2019-12-18 criteria provided, single submitter research ACMG codes: PM2, PM5, PP3, PP4
Baylor Genetics RCV001027861 SCV001520482 uncertain significance Multiple gastrointestinal atresias 2019-12-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001759925 SCV001999639 uncertain significance not provided 2019-11-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; A different missense variant at this residue (A832T) was reported in published literature in the homozygous state in two siblings with apoptotic enterocolitis (Avitzur et al., 2014); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect

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