ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.1252T>A (p.Tyr418Asn)

dbSNP: rs1281121095
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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 RCV001304421 SCV001493701 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2018-06-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with ACD-related disease. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with asparagine at codon 504 of the ACD protein (p.Tyr504Asn). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and asparagine.

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