ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.781C>G (p.Leu261Val)

gnomAD frequency: 0.00001  dbSNP: rs760404492
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000797438 SCV000936995 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2023-10-10 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 347 of the ACD protein (p.Leu347Val). This variant is present in population databases (rs760404492, gnomAD 0.007%). 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: 643676). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ACD protein function. 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 RCV002388452 SCV002701121 uncertain significance Inborn genetic diseases 2023-07-13 criteria provided, single submitter clinical testing The p.L347V variant (also known as c.1039C>G), located in coding exon 9 of the ACD gene, results from a C to G substitution at nucleotide position 1039. The leucine at codon 347 is replaced by valine, 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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