ClinVar Miner

Submissions for variant NM_001822.7(CHN1):c.80C>G (p.Ala27Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group, Broad Institute RCV001267709 SCV001445961 uncertain significance Duane retraction syndrome 2 2020-11-16 criteria provided, single submitter curation The heterozygous p.Ala27Gly variant in CHN1 was identified by our study in 1 individual with Duane retraction syndrome 2. The variant has not been previously reported in individuals with Duane retraction syndrome 2 and was absent from large population studies. Computational prediction tools, including splice predictors, and conservation analyses suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the variant is uncertain. ACMG/AMP Criteria applied: PM2, BP4 (Richards 2015).

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