ClinVar Miner

Submissions for variant NM_001113491.2(SEPTIN9):c.1313A>G (p.Asn438Ser)

gnomAD frequency: 0.00001  dbSNP: rs749673813
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196286 SCV001366866 uncertain significance See cases 2019-06-26 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.
GeneDx RCV001760157 SCV001999295 uncertain significance not provided 2020-01-20 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001760157 SCV003843919 uncertain significance not provided 2022-06-14 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 930536). This variant has not been reported in the literature in individuals affected with SEPT9-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 420 of the SEPT9 protein (p.Asn420Ser). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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