ClinVar Miner

Submissions for variant NM_003114.5(SPAG1):c.740A>G (p.Asn247Ser)

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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 RCV003875932 SCV004677889 uncertain significance Primary ciliary dyskinesia 28 2023-06-15 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 247 of the SPAG1 protein (p.Asn247Ser). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SPAG1 protein function. This variant has not been reported in the literature in individuals affected with SPAG1-related conditions. This variant is present in population databases (rs749116480, gnomAD 0.01%).

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