ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1001+3_1001+6del

dbSNP: rs587776971
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Aleixo Muise Laboratory, Hospital For Sick Children RCV004562229 SCV005088107 pathogenic Gastrointestinal defects and immunodeficiency syndrome 1 2024-07-05 criteria provided, single submitter research PS1;PM2;PM3;PP3;PP4
Fulgent Genetics, Fulgent Genetics RCV004562229 SCV005661077 pathogenic Gastrointestinal defects and immunodeficiency syndrome 1 2024-03-26 criteria provided, single submitter clinical testing
OMIM RCV004562229 SCV000071330 pathogenic Gastrointestinal defects and immunodeficiency syndrome 1 2013-09-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003415786 SCV004115431 pathogenic TTC7A-related disorder 2024-05-04 no assertion criteria provided clinical testing The TTC7A c.1001+3_1001+6delAAGT variant is predicted to result in an intronic deletion. This variant was reported in the homozygous and compound heterozygous state with a second pathogenic variant in multiple individuals with multiple intestinal atresia (also described as c.53344_53347delAAGT or c.1000delAAGT; Samuels et al. 2013. PubMed ID: 23423984; Chen et al. 2013. PubMed ID: 23830146; Table E1, Stray-Pedersen et al. 2016. PubMed ID: 27577878; Mandiá et al. 2018. PubMed ID: 29879038). This variant is reported in 0.0079% of alleles in individuals of European (Non-Finnish) descent in gnomAD. This variant is interpreted as pathogenic.

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