ClinVar Miner

Submissions for variant NM_198334.3(GANAB):c.560+451C>T

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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 RCV002580352 SCV002930716 uncertain significance not provided 2024-11-11 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 189 of the GANAB protein (p.Ser189Leu). This variant is present in population databases (rs182247032, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with GANAB-related conditions. ClinVar contains an entry for this variant (Variation ID: 1902533). 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 GANAB protein function with a positive predictive value of 95%. 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.
Fulgent Genetics, Fulgent Genetics RCV005050593 SCV005683953 uncertain significance Polycystic kidney disease 3 with or without polycystic liver disease 2024-02-28 criteria provided, single submitter clinical testing

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