ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.302-8_303del

dbSNP: rs2090026700
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001242664 SCV001415767 likely pathogenic Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 2019-10-15 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Loss-of-function variants in RTEL1 are known to be pathogenic (PMID: 23453664, 23959892, 25607374). This variant has not been reported in the literature in individuals with RTEL1-related conditions. This variant results in the deletion of part of exon 4 (c.302-8_303del) of the RTEL1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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