ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.1025A>G (p.Gln342Arg)

dbSNP: rs1567640107
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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 RCV000689376 SCV000817024 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2020-03-06 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with ACD-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with arginine at codon 428 of the ACD protein (p.Gln428Arg). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and arginine.
Ambry Genetics RCV002386179 SCV002689327 uncertain significance Inborn genetic diseases 2022-08-22 criteria provided, single submitter clinical testing The p.Q428R variant (also known as c.1283A>G), located in coding exon 10 of the ACD gene, results from an A to G substitution at nucleotide position 1283. The glutamine at codon 428 is replaced by arginine, an amino acid with highly 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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