ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.602C>T (p.Ala201Val)

gnomAD frequency: 0.00003  dbSNP: rs777707916
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001069397 SCV001234561 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2023-02-22 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 287 of the ACD protein (p.Ala287Val). This variant is present in population databases (rs777707916, 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: 862640). 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.
Genetic Services Laboratory, University of Chicago RCV001819794 SCV002070215 uncertain significance not specified 2020-03-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002445359 SCV002679957 uncertain significance Inborn genetic diseases 2021-07-04 criteria provided, single submitter clinical testing The p.A287V variant (also known as c.860C>T), located in coding exon 7 of the ACD gene, results from a C to T substitution at nucleotide position 860. The alanine at codon 287 is replaced by valine, 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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