Submissions for variant NM_020458.4(TTC7A):c.189C>G (p.Asp63Glu)

gnomAD frequency: 0.00123  dbSNP: rs112301354

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000768358	SCV000899065	uncertain significance	Multiple gastrointestinal atresias	2018-12-03	criteria provided, single submitter	clinical testing	TTC7A NM_020458.3 exon 2 p.Asp63Glu (c.189C>G): This variant has not been reported in the literature and is present in 0.4% (112/24950) of African alleles in the Genome Aggregation Database, including one homozygote (http://gnomad.broadinstitute.org/variant/2-47177506-C-G). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000768358	SCV001121052	benign	Multiple gastrointestinal atresias	2024-01-25	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV003224464	SCV003920606	uncertain significance	Gastrointestinal defects and immunodeficiency syndrome 1	2021-03-30	criteria provided, single submitter	clinical testing	This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.3% [155/41438] including 1 homozygote; https://gnomad.broadinstitute.org/variant/2-46950367-C-G?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID: 626202). Evolutionary conservation for this variant is unclear on the predicted impact to the protein; computational prediction tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.