ClinVar Miner

Submissions for variant NC_000016.10:g.67660414G>A

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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 RCV002375829 SCV002667644 uncertain significance Inborn genetic diseases 2024-05-08 criteria provided, single submitter clinical testing The p.A22V variant (also known as c.65C>T), located in coding exon 1 of the ACD gene, results from a C to T substitution at nucleotide position 65. The alanine at codon 22 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003591942 SCV004354000 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2023-11-11 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 22 of the ACD protein (p.Ala22Val). This variant is present in population databases (rs369698525, gnomAD 0.002%). 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: 1754407). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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