ClinVar Miner

Submissions for variant NC_000016.10:g.67660324del

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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 RCV002575568 SCV002933904 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2022-09-23 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with ACD-related conditions. This variant is present in population databases (rs760567176, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Leu52Profs*32) in the ACD gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in ACD cause disease.

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