ClinVar Miner

Submissions for variant NM_003114.5(SPAG1):c.2752C>T (p.Gln918Ter)

gnomAD frequency: 0.00001  dbSNP: rs780337450
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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 RCV000819531 SCV000960196 uncertain significance Primary ciliary dyskinesia 28 2018-12-07 criteria provided, single submitter clinical testing This variant is present in population databases (rs780337450, ExAC 0.006%). 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. This variant has not been reported in the literature in individuals with SPAG1-related disease. This sequence change results in a premature translational stop signal in the SPAG1 gene (p.Gln918*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 9 amino acids of the SPAG1 protein.

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