ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.206G>C (p.Cys69Ser)

dbSNP: rs748312961
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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 RCV001925810 SCV002180027 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2021-11-01 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: "Tolerated"; PolyPhen-2: "Probably 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 cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 155 of the ACD protein (p.Cys155Ser).
Ambry Genetics RCV002334880 SCV002639918 uncertain significance Inborn genetic diseases 2022-06-11 criteria provided, single submitter clinical testing The p.C155S variant (also known as c.464G>C), located in coding exon 2 of the ACD gene, results from a G to C substitution at nucleotide position 464. The cysteine at codon 155 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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