ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.1125T>G (p.Phe375Leu)

gnomAD frequency: 0.00001  dbSNP: rs772867895
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001923776 SCV002196213 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2023-10-15 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 461 of the ACD protein (p.Phe461Leu). This variant is present in population databases (rs772867895, gnomAD 0.02%). 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: 1421445). 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 RCV002386740 SCV002696488 uncertain significance Inborn genetic diseases 2024-03-06 criteria provided, single submitter clinical testing The p.F461L variant (also known as c.1383T>G), located in coding exon 10 of the ACD gene, results from a T to G substitution at nucleotide position 1383. The phenylalanine at codon 461 is replaced by leucine, 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.

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