ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.853A>G (p.Met285Val)

gnomAD frequency: 0.00002  dbSNP: rs780951085
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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 RCV001054140 SCV001218439 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2024-08-13 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 371 of the ACD protein (p.Met371Val). This variant is present in population databases (rs780951085, gnomAD 0.007%). 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: 850054). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) 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.
Ambry Genetics RCV002429660 SCV002741488 uncertain significance Inborn genetic diseases 2023-03-13 criteria provided, single submitter clinical testing The c.1111A>G (p.M371V) alteration is located in exon 10 (coding exon 10) of the ACD gene. This alteration results from a A to G substitution at nucleotide position 1111, causing the methionine (M) at amino acid position 371 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003321789 SCV004026610 uncertain significance not specified 2025-03-04 criteria provided, single submitter clinical testing

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