ClinVar Miner

Submissions for variant NM_003114.5(SPAG1):c.985G>T (p.Ala329Ser)

gnomAD frequency: 0.00007  dbSNP: rs543044004
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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 RCV001888294 SCV002142975 uncertain significance Primary ciliary dyskinesia 28 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 329 of the SPAG1 protein (p.Ala329Ser). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and serine. This variant is present in population databases (rs543044004, ExAC 0.04%). This variant has not been reported in the literature in individuals affected with SPAG1-related conditions. 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 tolerated. 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.

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