ClinVar Miner

Submissions for variant NG_042874.1(ACD)::g.5474del (rs753666055)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652834 SCV000774706 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2018-06-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg46Leufs*38) in the ACD gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs753666055, ExAC 0.004%). This variant has not been reported in the literature in individuals with ACD-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in ACD cause disease. 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.
Mendelics RCV000652834 SCV001140122 likely pathogenic Dyskeratosis congenita, autosomal dominant 6 2019-05-28 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000709901 SCV000840242 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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