ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.6488A>G (p.Lys2163Arg)

gnomAD frequency: 0.00009  dbSNP: rs144289764
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189528 SCV000243171 likely benign not specified 2017-06-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000549789 SCV000633795 benign Early infantile epileptic encephalopathy with suppression bursts 2023-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317651 SCV000851426 uncertain significance Inborn genetic diseases 2016-12-30 criteria provided, single submitter clinical testing The p.K2163R variant (also known as c.6488A>G), located in coding exon 48 of the SPTAN1 gene, results from an A to G substitution at nucleotide position 6488. The lysine at codon 2163 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.
Institute of Human Genetics, University of Leipzig Medical Center RCV001262535 SCV001440452 benign Developmental and epileptic encephalopathy, 5 2019-01-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001262535 SCV002056584 benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003221842 SCV003917711 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing SPTAN1: PP2, BS2

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