ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.812C>A (p.Ser271Tyr)

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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 RCV002421557 SCV002718065 uncertain significance Inborn genetic diseases 2023-10-15 criteria provided, single submitter clinical testing The p.S357Y variant (also known as c.1070C>A), located in coding exon 9 of the ACD gene, results from a C to A substitution at nucleotide position 1070. The serine at codon 357 is replaced by tyrosine, an amino acid with 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 RCV003097379 SCV003459649 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2022-04-01 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; 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 variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 357 of the ACD protein (p.Ser357Tyr).

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