ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.2534A>G (p.Gln845Arg)

dbSNP: rs1564229501
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002317960 SCV000849492 uncertain significance Inborn genetic diseases 2017-05-23 criteria provided, single submitter clinical testing The p.Q845R variant (also known as c.2534A>G), located in coding exon 17 of the SPTAN1 gene, results from an A to G substitution at nucleotide position 2534. The glutamine at codon 845 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001323536 SCV001514455 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-09-10 criteria provided, single submitter clinical testing 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SPTAN1 protein function. ClinVar contains an entry for this variant (Variation ID: 589016). This variant has not been reported in the literature in individuals affected with SPTAN1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 845 of the SPTAN1 protein (p.Gln845Arg).
Genome-Nilou Lab RCV001809784 SCV002056747 uncertain significance Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing

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