ClinVar Miner

Submissions for variant NM_001113491.2(SEPTIN9):c.1219C>T (p.Arg407Cys)

gnomAD frequency: 0.00004  dbSNP: rs1294350608
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001420661 SCV001622993 uncertain significance Amyotrophic neuralgia 2020-07-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001256031 SCV002510712 uncertain significance not provided 2022-12-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 389 of the SEPT9 protein (p.Arg389Cys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SEPT9-related conditions. ClinVar contains an entry for this variant (Variation ID: 978094). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SEPT9 protein function. 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.
Ambry Genetics RCV004035357 SCV004947187 uncertain significance Inborn genetic diseases 2023-12-14 criteria provided, single submitter clinical testing The c.1165C>T (p.R389C) alteration is located in exon 6 (coding exon 6) of the SEPT9 gene. This alteration results from a C to T substitution at nucleotide position 1165, causing the arginine (R) at amino acid position 389 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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