ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.641A>G (p.Lys214Arg)

gnomAD frequency: 0.00002  dbSNP: rs760419507
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189487 SCV000243130 likely benign not specified 2015-03-09 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.
CeGaT Center for Human Genetics Tuebingen RCV000487757 SCV000575595 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808506 SCV002056524 likely benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002362990 SCV002658572 uncertain significance Inborn genetic diseases 2018-04-24 criteria provided, single submitter clinical testing The p.K214R variant (also known as c.641A>G), located in coding exon 4 of the SPTAN1 gene, results from an A to G substitution at nucleotide position 641. The lysine at codon 214 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.
Invitae RCV002514066 SCV003492419 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-07-14 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). ClinVar contains an entry for this variant (Variation ID: 207314). This variant has not been reported in the literature in individuals affected with SPTAN1-related conditions. This variant is present in population databases (rs760419507, gnomAD 0.003%). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 214 of the SPTAN1 protein (p.Lys214Arg).

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