ClinVar Miner

Submissions for variant NM_001082486.1(ACD):c.71_72invGG (p.Trp24Ser)

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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 RCV000697177 SCV000825774 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2025-01-11 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 24 of the ACD protein (p.Trp24Ser). This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 575071). 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 RCV002533477 SCV003644633 uncertain significance Inborn genetic diseases 2022-08-24 criteria provided, single submitter clinical testing The c.71_72delGGinsCC (p.W24S) alteration, located in exon 1 (coding exon 1) of the ACD gene, consists of an in-frame substitution of 2 nucleotides from position 71 to 72, resulting in the insertion of <NA> residues. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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