ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.343G>C (p.Glu115Gln)

dbSNP: rs141113896
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001040615 SCV001204200 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2019-12-30 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glutamine at codon 201 of the ACD protein (p.Glu201Gln). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and glutamine. This variant is present in population databases (rs141113896, ExAC 0.002%). This variant has not been reported in the literature in individuals with ACD-related conditions. 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"). 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.

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