ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.7414C>T (p.Arg2472Cys) (rs759975874)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224859 SCV000281334 likely benign not provided 2014-12-05 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000807806 SCV000947880 uncertain significance Early infantile epileptic encephalopathy 2018-08-03 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 2472 of the SPTAN1 protein (p.Arg2472Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs759975874, ExAC 0.006%). This variant has not been reported in the literature in individuals with SPTAN1-related disease. ClinVar contains an entry for this variant (Variation ID: 235617). 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 C45"). 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.

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