ClinVar Miner

Submissions for variant NM_001113491.2(SEPTIN9):c.380C>T (p.Pro127Leu)

gnomAD frequency: 0.00001  dbSNP: rs758106177
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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 RCV002239915 SCV002510780 uncertain significance not provided 2021-03-10 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with SEPT9-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This sequence change replaces proline with leucine at codon 109 of the SEPT9 protein (p.Pro109Leu). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and leucine.

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