ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.437G>T (p.Arg146Leu)

dbSNP: rs61746139
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552097 SCV000630312 benign Multiple gastrointestinal atresias 2024-01-29 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000552097 SCV000782488 uncertain significance Multiple gastrointestinal atresias 2016-08-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001532402 SCV001747955 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing TTC7A: BS2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002060296 SCV002496018 uncertain significance Gastrointestinal defects and immunodeficiency syndrome 1 2021-06-14 criteria provided, single submitter clinical testing TTC7A NM_020458.2 exon 3 p.Arg146Leu (c.437G>T): This variant has not been reported in the literature but is present in 0.6% (476/68038) of European alleles including 4 homozygotes in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/2-46956927-G-T?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:458800). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Ambry Genetics RCV002528316 SCV003620751 uncertain significance Inborn genetic diseases 2021-09-01 criteria provided, single submitter clinical testing The c.437G>T (p.R146L) alteration is located in exon 3 (coding exon 3) of the TTC7A gene. This alteration results from a G to T substitution at nucleotide position 437, causing the arginine (R) at amino acid position 146 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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