ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.1364_1367del (p.Pro455fs)

dbSNP: rs772312742
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001211424 SCV001382965 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2024-12-30 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the ACD gene (p.Pro541Leufs*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 4 amino acid(s) of the ACD protein and extend the protein by an unknown number of additional amino acid residues. This variant is present in population databases (rs772312742, gnomAD 0.006%). 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: 941603). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Ambry Genetics RCV003246758 SCV003942509 uncertain significance Inborn genetic diseases 2023-03-24 criteria provided, single submitter clinical testing Not expected to trigger nonsense-mediated mRNA decay Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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