ClinVar Miner

Submissions for variant NM_003551.3(NME5):c.572G>A (p.Trp191Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002284165 SCV003841664 likely pathogenic Ciliary dyskinesia, primary, 48, without situs inversus 2023-02-23 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.001%). This variant was predicted to result in a loss or disruption of normal protein function through protein truncation. The predicted truncated protein may be shortened by more than 10%. Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV002284165 SCV002573545 pathogenic Ciliary dyskinesia, primary, 48, without situs inversus 2022-09-15 no assertion criteria provided literature only

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