Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000516514 | SCV000612193 | pathogenic | not provided | 2019-08-23 | criteria provided, single submitter | clinical testing | Not found in the total gnomAD dataset, and the data is high quality. Found in at least one patient with expected phenotype for this gene. Predicted to have a damaging effect on the protein. Very strong co-segregation with disease, and data include affected and unaffected individuals from multiple families. |
Fulgent Genetics, |
RCV000006221 | SCV000894152 | pathogenic | Amyotrophic neuralgia | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000516514 | SCV001873548 | pathogenic | not provided | 2023-05-17 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a damaging effect resulting in likely altered interactions with partner molecules and lack of response to Rhotekin signaling (Sudo et al., 2007); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 19451530, 16186812, 30019529, 31619932, 18492087, 19204161, 20019224, 22981636, 27535533, 17546647, 28503616) |
Invitae | RCV000516514 | SCV002510800 | pathogenic | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | 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. For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects SEPT9 function (PMID: 17546647). ClinVar contains an entry for this variant (Variation ID: 5863). This missense change has been observed in individual(s) with hereditary neuralgic amyotrophy (PMID: 16186812, 18492087, 19204161, 20019224, 22981636, 28503616, 31619932). In at least one individual the variant was observed to be de novo. It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 88 of the SEPT9 protein (p.Arg88Trp). |
OMIM | RCV000006221 | SCV000026403 | pathogenic | Amyotrophic neuralgia | 2009-05-19 | no assertion criteria provided | literature only | |
Gene |
RCV000006221 | SCV000041183 | not provided | Amyotrophic neuralgia | no assertion provided | literature only | ||
Clinical Genetics, |
RCV000516514 | SCV001921335 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000516514 | SCV001966839 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Genome |
RCV000006221 | SCV002075249 | not provided | Amyotrophic neuralgia | no assertion provided | phenotyping only | Variant classified as Pathogenic and reported on 07-21-2021 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |