ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.961T>A (p.Ser321Thr)

dbSNP: rs2052915383
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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 RCV001202242 SCV001373348 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2019-07-12 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with ACD-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with threonine at codon 407 of the ACD protein (p.Ser407Thr). The serine residue is highly conserved and there is a small physicochemical difference between serine and threonine.
Ambry Genetics RCV002365907 SCV002660813 uncertain significance Inborn genetic diseases 2022-06-26 criteria provided, single submitter clinical testing The p.S407T variant (also known as c.1219T>A), located in coding exon 10 of the ACD gene, results from a T to A substitution at nucleotide position 1219. The serine at codon 407 is replaced by threonine, an amino acid with 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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