ClinVar Miner

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

gnomAD frequency: 0.00088  dbSNP: rs151032299
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Total submissions: 5
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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.
Invitae RCV000768359 SCV001066797 likely benign Multiple gastrointestinal atresias 2024-01-16 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 condition 2020-04-24 criteria provided, single submitter 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).

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