ClinVar Miner

Submissions for variant NM_022454.4(SOX17):c.982C>G (p.Pro328Ala)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002965019 SCV003695136 uncertain significance Inborn genetic diseases 2022-04-13 criteria provided, single submitter clinical testing The c.982C>G (p.P328A) alteration is located in exon 2 (coding exon 2) of the SOX17 gene. This alteration results from a C to G substitution at nucleotide position 982, causing the proline (P) at amino acid position 328 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003434648 SCV004155806 uncertain significance not provided 2022-12-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005047361 SCV005675198 uncertain significance Vesicoureteral reflux 3 2024-05-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003434648 SCV005827588 uncertain significance not provided 2024-10-17 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 328 of the SOX17 protein (p.Pro328Ala). This variant is present in population databases (rs774273287, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with SOX17-related conditions. ClinVar contains an entry for this variant (Variation ID: 2355551). 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 not expected to disrupt SOX17 protein function with a negative 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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