Submissions for variant NM_020458.4(TTC7A):c.2484G>C (p.Gln828His)

gnomAD frequency: 0.00088  dbSNP: rs151032299

Total submissions: 5

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	RCV000768359	SCV000899066	uncertain significance	Multiple gastrointestinal atresias	2018-09-28	criteria provided, single submitter	clinical testing	TTC7A NM_020458.3 exon 20 p.Gln828His (c.2484G>C): This variant has not been reported in the literature but is present in 0.3% (76/23966) of African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs151032299). Evolutionary conservation and computational predictive 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000768359	SCV001066797	likely benign	Multiple gastrointestinal atresias	2024-12-19	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV003224465	SCV003920609	uncertain significance	Gastrointestinal defects and immunodeficiency syndrome 1	2021-03-30	criteria provided, single submitter	clinical testing	TTC7A NM_020458.3 exon 20 p.Gln828His (c.2484G>C): This variant has not been reported in the literature but is present in 0.3% (76/23966) of African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs151032299). Evolutionary conservation and computational predictive 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.
Ambry Genetics	RCV003243295	SCV003938147	uncertain significance	Inborn genetic diseases	2023-05-04	criteria provided, single submitter	clinical testing	The c.2484G>C (p.Q828H) alteration is located in exon 20 (coding exon 20) of the TTC7A gene. This alteration results from a G to C substitution at nucleotide position 2484, causing the glutamine (Q) at amino acid position 828 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV003908078	SCV004725719	likely benign	TTC7A-related disorder	2020-04-24	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).