ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.950_951del (p.Pro317fs)

dbSNP: rs2142968355
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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 RCV001902249 SCV002136853 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2021-01-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro403Argfs*35) 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 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. This variant has not been reported in the literature in individuals with ACD-related conditions.

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