ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.895T>A (p.Cys299Ser)

gnomAD frequency: 0.00001  dbSNP: rs1198449310
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Total submissions: 2
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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 RCV001280960 SCV001468333 uncertain significance Multiple gastrointestinal atresias 2020-06-30 criteria provided, single submitter clinical testing TTC7A NM_020458.3 exon 7 p.Cys299Ser (c.895T>A):This variant has not been reported in the literature but is present in 0.001% (2/113458) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/2-47221547-T-A?dataset=gnomad_r2_1). Evolutionary conservation suggests that this variant may impact the protein; 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224540 SCV003920607 uncertain significance Gastrointestinal defects and immunodeficiency syndrome 1 2021-03-30 criteria provided, single submitter clinical testing TTC7A NM_020458.3 exon 7 p.Cys299Ser (c.895T>A):This variant has not been reported in the literature but is present in 0.001% (2/113458) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/2-47221547-T-A?dataset=gnomad_r2_1). Evolutionary conservation suggests that this variant may impact the protein; 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.

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