ClinVar Miner

Submissions for variant NC_000016.10:g.67660300A>C

gnomAD frequency: 0.00003  dbSNP: rs753367228
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498310 SCV000590211 uncertain significance not specified 2017-06-07 criteria provided, single submitter clinical testing The L60R variant in the ACD gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The L60R variant is observed in 1/11024 (0.0091%) alleles from individuals of Latino background in the ExAC dataset (Lek et al., 2016). The L60R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position where amino acids with similar properties to Leucine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret L60R as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000795226 SCV000934673 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2024-01-11 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 60 of the ACD protein (p.Leu60Arg). This variant is present in population databases (rs753367228, gnomAD 0.006%). 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: 432482). 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. 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 RCV002413367 SCV002710741 uncertain significance Inborn genetic diseases 2021-09-13 criteria provided, single submitter clinical testing The p.L60R variant (also known as c.179T>G), located in coding exon 1 of the ACD gene, results from a T to G substitution at nucleotide position 179. The leucine at codon 60 is replaced by arginine, an amino acid with dissimilar 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.

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