ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.997G>A (p.Ala333Thr)

gnomAD frequency: 0.00031  dbSNP: rs202104741
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501640 SCV000593012 uncertain significance not specified 2016-12-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000794367 SCV000933772 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 419 of the ACD protein (p.Ala419Thr). This variant is present in population databases (rs202104741, gnomAD 0.1%). 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: 434067). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV002420273 SCV002680033 uncertain significance Inborn genetic diseases 2023-08-02 criteria provided, single submitter clinical testing The c.1255G>A (p.A419T) alteration is located in exon 10 (coding exon 10) of the ACD gene. This alteration results from a G to A substitution at nucleotide position 1255, causing the alanine (A) at amino acid position 419 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000501640 SCV004242711 uncertain significance not specified 2024-02-06 criteria provided, single submitter clinical testing

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