ClinVar Miner

Submissions for variant NM_003114.5(SPAG1):c.1985A>C (p.Asn662Thr)

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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 RCV003043881 SCV003341294 uncertain significance Primary ciliary dyskinesia 28 2022-04-13 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SPAG1-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant is present in population databases (rs747424398, gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with threonine, which is neutral and polar, at codon 662 of the SPAG1 protein (p.Asn662Thr).

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