ClinVar Miner

Submissions for variant NM_001082486.1(ACD):c.125C>A (p.Ala42Glu)

gnomAD frequency: 0.00001  dbSNP: rs1396620065
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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 RCV002022654 SCV002288651 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2023-11-02 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 42 of the ACD protein (p.Ala42Glu). This variant is not present in population databases (gnomAD no frequency). 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: 1503092). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV002425400 SCV002681444 uncertain significance Inborn genetic diseases 2021-08-11 criteria provided, single submitter clinical testing The p.A42E variant (also known as c.125C>A), located in coding exon 1 of the ACD gene, results from a C to A substitution at nucleotide position 125. The alanine at codon 42 is replaced by glutamic acid, an amino acid with dissimilar 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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