ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1869C>A (p.Cys623Ter)

dbSNP: rs1682321195
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001215173 SCV001386903 pathogenic Multiple gastrointestinal atresias 2019-07-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TTC7A are known to be pathogenic (PMID: 23830146, 24292712). This variant has been observed in an individual with clinical features of gastrointestinal defects and immunodeficiency syndrome (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys623*) in the TTC7A gene. It is expected to result in an absent or disrupted protein product.
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002272413 SCV002557453 pathogenic Gastrointestinal defects and immunodeficiency syndrome 1 2020-05-21 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.1.1, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss-of-function is a known mechanism of disease for this gene (PMID: 24292712; 24417819). (N) 0106 - This gene is known to be associated with autosomal recessive gastrointestinal defects and immunodeficiency syndrome (OMIM). (N) 0202 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein but is located in an exon that may undergo alternative splicing (exon 16 of 20; GTEx Portal). (P) 0251 - Variant is heterozygous. (N) 0301 - Variant is absent from gnomAD. (P) 0701 - Comparable variants have very strong previous evidence for pathogenicity (ClinVar). (P) 0807 - Variant has not previously been reported in ClinVar or LOVD. (N) 0905 - No segregation evidence has been identified for this variant. (N) 1007 - No published functional evidence has been identified for this variant. (N) 1205 - Variant is maternally inherited. (N) Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign

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