ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.395+2T>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV004789891 SCV005398288 likely pathogenic Dyskeratosis congenita, autosomal recessive 5 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 dyskeratosis congenita, autosomal dominant 4 and dyskeratosis congenita, autosomal recessive 5 (MIM#615190), and autosomal dominant pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (MIM#616373). (I) 0108 - This gene is associated with both recessive and dominant disease. Currently, the genotype-phenotype relationship has not been established (OMIM). (I) 0112 - The condition associated with this gene has incomplete penetrance. Monoallelic pathogenic variants have been reported in asymptomatic family members (PMID: 23329068, 25848748, 35199181). (I) 0115 - Variants in this gene are known to have variable expressivity (OMIM). (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) 0704 - Another canonical splice variant comparable to the one identified in this case has limited previous evidence for pathogenicity. c.395+1G>T has been reported once as likely pathogenic by a clinical laboratory (ClinVar). (SP) 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) 1205 - This variant has been shown to be maternally inherited (by trio analysis). (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign

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