ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.980C>G (p.Thr327Ser)

gnomAD frequency: 0.00003  dbSNP: rs1300291520
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001819352 SCV002065676 uncertain significance not specified 2018-09-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001885332 SCV002124928 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 413 of the ACD protein (p.Thr413Ser). 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: 1336866). 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 RCV002361074 SCV002662729 uncertain significance Inborn genetic diseases 2024-03-12 criteria provided, single submitter clinical testing The p.T413S variant (also known as c.1238C>G), located in coding exon 10 of the ACD gene, results from a C to G substitution at nucleotide position 1238. The threonine at codon 413 is replaced by serine, 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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