ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.820A>G (p.Ser274Gly)

dbSNP: rs2052924182
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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 RCV001899357 SCV002135047 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2021-09-04 criteria provided, single submitter clinical testing 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. 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 glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with ACD-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with glycine at codon 360 of the ACD protein (p.Ser360Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine.
Ambry Genetics RCV002422933 SCV002729771 uncertain significance Inborn genetic diseases 2023-12-17 criteria provided, single submitter clinical testing The p.S360G variant (also known as c.1078A>G), located in coding exon 9 of the ACD gene, results from an A to G substitution at nucleotide position 1078. The serine at codon 360 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.

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