ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.-29C>T

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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 RCV002446422 SCV002734915 uncertain significance Inborn genetic diseases 2024-03-25 criteria provided, single submitter clinical testing The p.P77L variant (also known as c.230C>T), located in coding exon 1 of the ACD gene, results from a C to T substitution at nucleotide position 230. The proline at codon 77 is replaced by leucine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003591958 SCV004285863 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2023-07-07 criteria provided, single submitter clinical testing This variant is present in population databases (rs534010648, gnomAD 0.006%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 77 of the ACD protein (p.Pro77Leu). This variant has not been reported in the literature in individuals affected with ACD-related conditions. 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1789409).

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