ClinVar Miner

Submissions for variant NM_001371986.1(UNC80):c.1564C>T (p.Arg522Trp)

gnomAD frequency: 0.00002  dbSNP: rs779351755
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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 RCV001932636 SCV002167631 uncertain significance not provided 2022-01-14 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 522 of the UNC80 protein (p.Arg522Trp). This variant is present in population databases (rs779351755, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of UNC80-related conditions (PMID: 31785789). 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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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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