ClinVar Miner

Submissions for variant NM_001283009.2(RTEL1):c.3807G>C (p.Trp1269Cys)

dbSNP: rs2145481109
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001775259 SCV002011986 uncertain significance Dyskeratosis congenita, autosomal recessive 5 2021-10-02 criteria provided, single submitter clinical testing It is not observed in the gnomAD v2.1.1 dataset (PM2). The variant is in trans with the other variant (NM_032957.4: c.2213+5G>A, 3billion dataset, PM3_P). Patient's phenotype is considered compatible with Dyskeratosis congenita, autosomal recessive 5 (3billion dataset, PP4). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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