ClinVar Miner

Submissions for variant NC_000016.10:g.67660303T>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002401791 SCV002711817 uncertain significance Inborn genetic diseases 2024-06-24 criteria provided, single submitter clinical testing The p.E59G variant (also known as c.176A>G), located in coding exon 1 of the ACD gene, results from an A to G substitution at nucleotide position 176. The glutamic acid at codon 59 is replaced by glycine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003100824 SCV003498405 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2023-07-20 criteria provided, single submitter clinical testing 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1779753). This variant has not been reported in the literature in individuals affected with ACD-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.001%). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 59 of the ACD protein (p.Glu59Gly). 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.

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