ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.494G>A (p.Arg165His)

gnomAD frequency: 0.00006  dbSNP: rs747969201
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001306619 SCV001496000 likely benign Familial hemophagocytic lymphohistiocytosis 5 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002543170 SCV003731219 uncertain significance Inborn genetic diseases 2024-03-19 criteria provided, single submitter clinical testing The c.494G>A (p.R165H) alteration is located in exon 7 (coding exon 7) of the STXBP2 gene. This alteration results from a G to A substitution at nucleotide position 494, causing the arginine (R) at amino acid position 165 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004704518 SCV005208083 likely benign not provided criteria provided, single submitter not provided

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