ClinVar Miner

Submissions for variant NM_003114.5(SPAG1):c.2066G>A (p.Gly689Glu)

gnomAD frequency: 0.00001  dbSNP: rs745853774
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001982353 SCV002218593 uncertain significance Primary ciliary dyskinesia 28 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 689 of the SPAG1 protein (p.Gly689Glu). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is present in population databases (rs745853774, ExAC 0.006%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Revvity Omics, Revvity RCV001982353 SCV003824518 uncertain significance Primary ciliary dyskinesia 28 2019-08-01 criteria provided, single submitter clinical testing

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