ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.4543G>T (p.Gly1515Cys)

dbSNP: rs149899658
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000540596 SCV000633780 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316531 SCV000851084 uncertain significance Inborn genetic diseases 2016-06-24 criteria provided, single submitter clinical testing The p.G1515C variant (also known as c.4543G>T), located in coding exon 34 of the SPTAN1 gene, results from a G to T substitution at nucleotide position 4543. The glycine at codon 1515 is replaced by cysteine, an amino acid with highly dissimilar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This amino acid position is not well 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.
Genome-Nilou Lab RCV001809478 SCV002056763 uncertain significance Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing

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