ClinVar Miner

Submissions for variant NM_003114.5(SPAG1):c.670G>T (p.Asp224Tyr)

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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 RCV005183459 SCV005811937 uncertain significance Primary ciliary dyskinesia 28 2024-12-02 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 224 of the SPAG1 protein (p.Asp224Tyr). This variant is present in population databases (rs749152324, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with SPAG1-related conditions. Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt SPAG1 protein function with a positive predictive value of 80%. 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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