ClinVar Miner

Submissions for variant NC_000016.10:g.67660461C>G

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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 RCV002408239 SCV002721971 uncertain significance Inborn genetic diseases 2021-08-28 criteria provided, single submitter clinical testing The p.Q6H variant (also known as c.18G>C), located in coding exon 1 of the ACD gene, results from a G to C substitution at nucleotide position 18. The glutamine at codon 6 is replaced by histidine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003774551 SCV004676043 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2023-04-09 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 6 of the ACD protein (p.Gln6His). 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. 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. ClinVar contains an entry for this variant (Variation ID: 1782284).

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