ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.137C>T (p.Ser46Phe)

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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 RCV002357665 SCV002622970 uncertain significance Inborn genetic diseases 2023-08-24 criteria provided, single submitter clinical testing The p.S132F variant (also known as c.395C>T), located in coding exon 2 of the ACD gene, results from a C to T substitution at nucleotide position 395. The serine at codon 132 is replaced by phenylalanine, an amino acid with highly dissimilar 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 RCV003094459 SCV003484241 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2022-09-17 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.007%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with ACD-related conditions. This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 132 of the ACD protein (p.Ser132Phe).

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