ClinVar Miner

Submissions for variant NM_198253.2(TERT):c.2701C>T (p.Arg901Trp) (rs199422304)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000032388 SCV000056044 pathologic Dyskeratosis congenita autosomal recessive 1 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.
Invitae RCV000812473 SCV000952787 uncertain significance Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 2018-07-16 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 901 of the TERT protein (p.Arg901Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has been observed as homozygous in an individual affected with Hoyeraal-Hreidarsson syndrome (PMID: 17785587). ClinVar contains an entry for this variant (Variation ID: 29901). Experimental studies have shown that this missense change reduces the telomerase activity of the TERT protein (PMID: 17785587). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000022785 SCV000044074 pathogenic Dyskeratosis congenita, autosomal recessive, 4 2007-12-15 no assertion criteria provided literature only

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