ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.974C>A (p.Thr325Asn)

dbSNP: rs777812658
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000687420 SCV000814984 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2023-12-18 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 411 of the ACD protein (p.Thr411Asn). This variant is present in population databases (rs777812658, 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: 567362). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ACD protein function with a negative predictive value of 80%. 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268250 SCV002551708 uncertain significance not specified 2024-07-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360724 SCV002662864 uncertain significance Inborn genetic diseases 2023-07-15 criteria provided, single submitter clinical testing The p.T411N variant (also known as c.1232C>A), located in coding exon 10 of the ACD gene, results from a C to A substitution at nucleotide position 1232. The threonine at codon 411 is replaced by asparagine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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