ClinVar Miner

Submissions for variant NC_000016.10:g.67660300A>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 RCV002407858 SCV002715005 uncertain significance Inborn genetic diseases 2024-03-15 criteria provided, single submitter clinical testing The p.L60P variant (also known as c.179T>C), located in coding exon 1 of the ACD gene, results from a T to C substitution at nucleotide position 179. The leucine at codon 60 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003100851 SCV003508195 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2021-12-11 criteria provided, single submitter clinical testing 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with ACD-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 60 of the ACD protein (p.Leu60Pro).

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