ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.1369C>G (p.Pro457Ala)

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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 RCV002401181 SCV002706883 uncertain significance Inborn genetic diseases 2022-03-08 criteria provided, single submitter clinical testing The p.P543A variant (also known as c.1627C>G), located in coding exon 12 of the ACD gene, results from a C to G substitution at nucleotide position 1627. The proline at codon 543 is replaced by alanine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003754971 SCV004509362 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2023-05-17 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. 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: 1776723). 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 0.003%). This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 543 of the ACD protein (p.Pro543Ala).

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