ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.1299G>A (p.Arg433=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002405331 SCV002708854 likely benign Inborn genetic diseases 2022-07-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV003096930 SCV003503503 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2022-04-07 criteria provided, single submitter clinical testing This sequence change affects codon 519 of the ACD mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ACD protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs756845439, gnomAD 0.01%). 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 is not likely to affect RNA splicing. 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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