ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1633G>A (p.Val545Ile)

gnomAD frequency: 0.00076  dbSNP: rs6755258
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Total submissions: 4
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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, Ann and Robert H. Lurie Children's Hospital of Chicago 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, Ann and Robert H. Lurie Children's Hospital of Chicago 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.

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