Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000778570 | SCV000914874 | uncertain significance | Generalized epilepsy with febrile seizures plus, type 7 | 2018-03-01 | criteria provided, single submitter | clinical testing | The SCN9A c.3449G>A (p.Trp1150Ter) variant is a stop-gained variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for SCN9A-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |
Illumina Laboratory Services, |
RCV001129048 | SCV001288546 | benign | Primary erythromelalgia | 2018-02-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Illumina Laboratory Services, |
RCV001129049 | SCV001288547 | benign | Paroxysmal extreme pain disorder | 2018-02-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
ARUP Laboratories, |
RCV001811060 | SCV001477870 | uncertain significance | not provided | 2020-02-28 | criteria provided, single submitter | clinical testing | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002252165 | SCV002523500 | uncertain significance | See cases | 2020-02-05 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PVS1 |
Ambry Genetics | RCV002456195 | SCV002616188 | uncertain significance | Inborn genetic diseases | 2020-06-25 | criteria provided, single submitter | clinical testing | The p.R1150Q variant (also known as c.3449G>A), located in coding exon 18 of the SCN9A gene, results from a G to A substitution at nucleotide position 3449. The arginine at codon 1150 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the supporting evidence, this variant is unlikely to be causative of primary erythermalgia/small fiber neuropathy, and paroxysmal extreme pain disorder (PEPD); however, its contribution to the development of congenital insensitivity to pain (CIP) and hereditary sensory autonomic neuropathy type II (HSAN2D) is uncertain. |
Gene |
RCV001811060 | SCV003842450 | uncertain significance | not provided | 2023-03-13 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge |