ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.6896_6904del (p.Trp2299_Gln2301del)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002289375 SCV002580196 pathogenic Developmental and epileptic encephalopathy, 5 2021-08-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004047607 SCV004956298 uncertain significance Inborn genetic diseases 2024-02-29 criteria provided, single submitter clinical testing The c.6896_6904delGGGACCAGC (p.W2299_Q2301del) alteration, located in coding exon 52 of the SPTAN1 gene, results from an in-frame deletion of 9 nucleotides at positions c.6896 to c.6904. This results in the deletion of 3 amino acids between codons 2299 and 2301. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). These amino acid positions are highly conserved in available vertebrate species. This alteration is predicted to be deleterious by in silico analysis (Choi, 2012). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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