Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002533376 | SCV000770721 | likely benign | Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765803 | SCV000897193 | uncertain significance | Interstitial lung disease 2; Aplastic anemia; Dyskeratosis congenita, autosomal dominant 1; Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1; Melanoma, cutaneous malignant, susceptibility to, 9 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003236829 | SCV003935618 | uncertain significance | not provided | 2023-05-30 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Reported as n.1451G>C, observed in a bone marrow sample in an individual with acute myeloid leukemia (Yan et al., 2013); This variant is associated with the following publications: (PMID: 26298771, 23157242) |
Prevention |
RCV003980260 | SCV004793006 | uncertain significance | TERT-related condition | 2023-11-17 | criteria provided, single submitter | clinical testing | The TERT c.1393G>C variant is predicted to result in the amino acid substitution p.Val465Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.15% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/5-1293608-C-G). It has conflicting interpretations in ClinVar of likely benign and uncertain significance (https://preview.ncbi.nlm.nih.gov/clinvar/variation/539202/). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |