ClinVar Miner

Submissions for variant NM_001363.5(DKC1):c.1054A>G (p.Thr352Ala)

dbSNP: rs1114167422
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genetics Unit, University Of Colombo RCV000491810 SCV000576414 likely pathogenic Dyskeratosis congenita, X-linked no assertion criteria provided clinical testing A 31-year-old male from Udupiddy Jaffna, in the Northern Province of Sri Lanka had a history of recurrent febrile episodes which resolved spontaneously over the preceding two months. He is a product of a non-consanguineous marriage. Several of his male relatives, including two maternal uncles and three maternal cousins were affected with a similar type of condition. Clinical diagnosis of DKC was made based on the classical features of presentation.

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