ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.359dup (p.Asp121fs)

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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 RCV003084404 SCV003480377 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2023-02-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp207Glyfs*30) 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 0.0009%). This variant has not been reported in the literature in individuals affected with ACD-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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