ClinVar Miner

Submissions for variant NM_001113491.2(SEPTIN9):c.1460T>C (p.Val487Ala)

gnomAD frequency: 0.00011  dbSNP: rs376712636
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuromuscular Department, Hannover Medical School RCV001002747 SCV001156521 uncertain significance Charcot-Marie-Tooth disease, type I 2019-02-20 criteria provided, single submitter clinical testing
GeneDx RCV001585911 SCV001819851 likely benign not provided 2020-12-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32122354)
Labcorp Genetics (formerly Invitae), Labcorp RCV001585911 SCV002510796 uncertain significance not provided 2024-10-15 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 469 of the SEPT9 protein (p.Val469Ala). This variant is present in population databases (rs376712636, gnomAD 0.02%). This missense change has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (PMID: 32122354). ClinVar contains an entry for this variant (Variation ID: 812141). 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 SEPT9 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.
Clinical Genetics, Academic Medical Center RCV001585911 SCV001924339 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001585911 SCV001952137 uncertain significance not provided no assertion criteria provided clinical testing

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