ClinVar Miner

Submissions for variant NM_001113491.2(SEPTIN9):c.316C>T (p.Arg106Trp)

dbSNP: rs80338761
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Total submissions: 9
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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, Fulgent Genetics RCV000006221 SCV000894152 pathogenic Amyotrophic neuralgia 2018-10-31 criteria provided, single submitter clinical testing
GeneDx 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
GeneReviews RCV000006221 SCV000041183 not provided Amyotrophic neuralgia no assertion provided literature only
Clinical Genetics, Academic Medical Center RCV000516514 SCV001921335 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000516514 SCV001966839 pathogenic not provided no assertion criteria provided clinical testing
GenomeConnect, ClinGen 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.

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