ClinVar Miner

Submissions for variant NC_000016.10:g.67660263_67660288del

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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 RCV002599237 SCV003496544 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2023-08-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly66Profs*45) 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. This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ACD-related conditions. ClinVar contains an entry for this variant (Variation ID: 2179658). 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.

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