ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.170C>T (p.Thr57Met)

gnomAD frequency: 0.00001  dbSNP: rs1383980242
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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 RCV001308023 SCV001497456 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2020-10-25 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 threonine with methionine at codon 143 of the ACD protein (p.Thr143Met). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and methionine.
Ambry Genetics RCV002327683 SCV002631808 uncertain significance Inborn genetic diseases 2024-03-18 criteria provided, single submitter clinical testing The p.T143M variant (also known as c.428C>T), located in coding exon 2 of the ACD gene, results from a C to T substitution at nucleotide position 428. The threonine at codon 143 is replaced by methionine, 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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