ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.742+4A>G

gnomAD frequency: 0.00001  dbSNP: rs1380521995
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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 RCV001314696 SCV001505240 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2022-08-31 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the ACD gene. It does not directly change the encoded amino acid sequence of the ACD protein. It affects a nucleotide within the consensus 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1015783). This variant has not been reported in the literature in individuals affected with ACD-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%).

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