ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.683G>A (p.Cys228Tyr)

gnomAD frequency: 0.00001  dbSNP: rs748280747
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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 RCV001338104 SCV001531744 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2022-07-23 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 314 of the ACD protein (p.Cys314Tyr). This variant is present in population databases (rs748280747, gnomAD 0.02%). 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: 1035262). 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. 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 RCV002377434 SCV002687144 uncertain significance Inborn genetic diseases 2023-10-13 criteria provided, single submitter clinical testing The p.C314Y variant (also known as c.941G>A), located in coding exon 8 of the ACD gene, results from a G to A substitution at nucleotide position 941. The cysteine at codon 314 is replaced by tyrosine, an amino acid with highly 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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