ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.-38A>T

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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 RCV002671293 SCV002985787 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 74 of the ACD protein (p.Asn74Ile). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV004066864 SCV005037372 uncertain significance Inborn genetic diseases 2023-09-18 criteria provided, single submitter clinical testing The p.N74I variant (also known as c.221A>T), located in coding exon 1 of the ACD gene, results from an A to T substitution at nucleotide position 221. The asparagine at codon 74 is replaced by isoleucine, 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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