Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000633665 | SCV000754926 | likely benign | Multiple gastrointestinal atresias | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV000633665 | SCV001468332 | uncertain significance | Multiple gastrointestinal atresias | 2020-08-03 | criteria provided, single submitter | clinical testing | TTC7A NM_020458.3 exon 14 p.Val545Ile (c.1633G>A): This variant has not been reported in the literature but is present in 0.2% (57/24038) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/2-47251490-G-A?dataset=gnomad_r2_1). This variant is present in ClinVar (Variation ID:528460). This variant amino acid Isoleucine (Ile) is present in 3 species (Chimp, White Rhino, Opossum) and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Ambry Genetics | RCV002529818 | SCV003634917 | uncertain significance | Inborn genetic diseases | 2021-11-12 | criteria provided, single submitter | clinical testing | The c.1633G>A (p.V545I) alteration is located in exon 14 (coding exon 14) of the TTC7A gene. This alteration results from a G to A substitution at nucleotide position 1633, causing the valine (V) at amino acid position 545 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Center for Genomics, |
RCV003224355 | SCV003920608 | uncertain significance | Gastrointestinal defects and immunodeficiency syndrome 1 | 2021-03-30 | criteria provided, single submitter | clinical testing | TTC7A NM_020458.3 exon 14 p.Val545Ile (c.1633G>A): This variant has not been reported in the literature but is present in 0.2% (57/24038) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/2-47251490-G-A?dataset=gnomad_r2_1). This variant is present in ClinVar (Variation ID:528460). This variant amino acid Isoleucine (Ile) is present in 3 species (Chimp, White Rhino, Opossum) and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |