ClinVar Miner

Submissions for variant NM_032504.1(UNC80):c.653T>C (p.Met218Thr) (rs761062440)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497922 SCV000590076 likely pathogenic not provided 2017-06-08 criteria provided, single submitter clinical testing The M218T variant in the UNC80 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The M218T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret M218T as a likely pathogenic variant.
GenomeConnect, ClinGen RCV000509542 SCV000607221 not provided UNC80-Related Disorder no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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