Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Victorian Clinical Genetics Services, |
RCV004789686 | SCV005399794 | likely pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | 2024-10-09 | criteria provided, single submitter | clinical testing | Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Likely Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with autosomal dominant dyskeratosis congenita 2 and autosomal recessive dyskeratosis congenita 4 (MIM#613989) and telomere-related pulmonary fibrosis and/or bone marrow failure 1 (MIM#614742). (I) 0108 - This gene is associated with both recessive and dominant disease. No specific genotype-phenotype correlations have been established (PMID: 20301779). (I) 0115 - Variants in this gene are known to have variable expressivity. Phenotypic variability is well reported for dyskeratosis congenita (OMIM, PMID: 20301779). (I) 0211 - Canonical splice site variant without proven consequence on splicing (no functional evidence available). (SP) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0505 - Abnormal splicing is predicted by in silico tools and affected nucleotide is highly conserved. (SP) 0705 - No comparable splice variants have previous evidence for pathogenicity. (I) 0807 - This variant has no previous evidence of pathogenicity. (I) 0905 - No published segregation evidence has been identified for this variant. (I) 1007 - No published functional evidence has been identified for this variant. (I) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign |