ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.737C>A (p.Thr246Lys)

dbSNP: rs1555542235
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652836 SCV000774708 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2017-11-23 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with ACD-related disease. This sequence change replaces threonine with lysine at codon 332 of the ACD protein (p.Thr332Lys). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and lysine.

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