ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.244GAG[1] (p.Glu83del)

dbSNP: rs1277350671
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bertuch Lab, Baylor College of Medicine RCV001523790 SCV001450738 pathogenic Dyskeratosis congenita, autosomal dominant 6 criteria provided, single submitter clinical testing This variant results in in-frame deletion of amino acid E169 in the ACD/TPP1 TEL patch, responsible for recruitment of telomerase to telomeres. It was identified in a child in trans with an ACD c.619delG loss-of-function variant and was maternally inherited. The child had clinical features of Hoyeraal Hreidarsson syndrome and very short telomeres. The mother, who was heterozygous for this variant, had telomeres lengths between the 1st and 10th percentiles by telomere flow FISH. Functional studies revealed reduced stimulation of telomerase activity and processivity in vitro.

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