ClinVar Miner

Submissions for variant NM_032957.4(RTEL1):c.102+2T>C (rs1555899111)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000587587 SCV000699740 pathogenic Dyskeratosis congenita 2016-06-16 criteria provided, single submitter clinical testing Variant summary: The RTEL1 c.102+2T>C variant involves the alteration of a conserved intronic nucleotide located at the invariant GT donor splice site of intron 2. One in silico tool predicts a damaging outcome along with 4/4 splice site tools predicting the variant to result in the loss of the canonical splice donor site at intron 2. The impact the variant is likely to have on normal splicing has not been tested by in vitro studies. The variant is absent in 119504 control chromosomes while it was reported in one patient in compound heterozygosity with another likely pathogenic RTEL1 variant c.2941C>T (p.Arg981Trp). This patient presented with global bone-marrow failure, immunodeficiency, cerebellar hypoplasia, microcephaly, intrauterine growth restriction and growth retardation which are hallmarks of DKC. One reputable database classifies it as pathogenic. Considering all evidences, this variant is classified as Pathogenic.

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