Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000534023 | SCV000630969 | likely benign | Jeune thoracic dystrophy; Nephronophthisis | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001336665 | SCV001530104 | uncertain significance | Nephronophthisis 12 | 2018-06-26 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Fulgent Genetics, |
RCV002483379 | SCV002786401 | uncertain significance | Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 | 2022-02-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002527695 | SCV003703552 | uncertain significance | Inborn genetic diseases | 2022-11-10 | criteria provided, single submitter | clinical testing | The c.2255A>G (p.N752S) alteration is located in exon 17 (coding exon 17) of the TTC21B gene. This alteration results from a A to G substitution at nucleotide position 2255, causing the asparagine (N) at amino acid position 752 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003942755 | SCV004758267 | uncertain significance | TTC21B-related condition | 2023-12-14 | criteria provided, single submitter | clinical testing | The TTC21B c.2255A>G variant is predicted to result in the amino acid substitution p.Asn752Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.11% of alleles in individuals of African descent in gnomAD. Although we suspect this variant could be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |