ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.125CCT[1] (p.Ser43del)

dbSNP: rs796053381
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189631 SCV000243276 uncertain significance not specified 2013-10-10 criteria provided, single submitter clinical testing c.128_130delCCT: p.Ser43del (S43del) in exon 3 of the STXBP1 gene (NM_003165.2).The normal sequence with the bases that are deleted in braces is: TCCT{CCT}GCTG. The c.128_130delCCT variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It results in an in-frame deletion of a single Serine residue at a highly conserved position in the protein. To our knowledge, in-frame deletions have not been previously reported in the STXBP1 gene. Therefore, based on the currently available information, it is unclear whether c.128_130delCCT is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).
Institute of Human Genetics, University of Leipzig Medical Center RCV001262403 SCV001440259 uncertain significance Developmental and epileptic encephalopathy, 4 2019-01-01 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509384 SCV000607329 not provided Early onset epileptic encephalopathy no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Pediatric Department, Xiangya Hospital, Central South University RCV001262403 SCV001961022 likely pathogenic Developmental and epileptic encephalopathy, 4 2020-01-09 no assertion criteria provided clinical testing

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