ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.-9G>T

dbSNP: rs377247506
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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 RCV001067322 SCV001232376 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2023-10-15 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 84 of the ACD protein (p.Ala84Ser). This variant is present in population databases (rs377247506, gnomAD 0.005%). 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: 860923). 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. 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 RCV002451290 SCV002738860 uncertain significance Inborn genetic diseases 2023-09-13 criteria provided, single submitter clinical testing The p.A84S variant (also known as c.250G>T), located in coding exon 1 of the ACD gene, results from a G to T substitution at nucleotide position 250. The alanine at codon 84 is replaced by serine, 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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