ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.1586G>A (p.Arg529Gln)

dbSNP: rs35490401
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000814223 SCV000954624 likely benign Familial hemophagocytic lymphohistiocytosis 5 2024-01-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV000814223 SCV001530599 uncertain significance Familial hemophagocytic lymphohistiocytosis 5 2018-04-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic RCV001507407 SCV001712947 uncertain significance not provided 2019-09-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002538187 SCV003634939 uncertain significance Inborn genetic diseases 2021-09-27 criteria provided, single submitter clinical testing The c.1586G>A (p.R529Q) alteration is located in exon 18 (coding exon 18) of the STXBP2 gene. This alteration results from a G to A substitution at nucleotide position 1586, causing the arginine (R) at amino acid position 529 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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