ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.514C>G (p.Leu172Val)

gnomAD frequency: 0.00006  dbSNP: rs905210837
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001248395 SCV001421879 uncertain significance Familial hemophagocytic lymphohistiocytosis 5 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 172 of the STXBP2 protein (p.Leu172Val). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with STXBP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 972375). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Ambry Genetics RCV004035279 SCV004960643 uncertain significance Inborn genetic diseases 2023-11-03 criteria provided, single submitter clinical testing The c.514C>G (p.L172V) alteration is located in exon 7 (coding exon 7) of the STXBP2 gene. This alteration results from a C to G substitution at nucleotide position 514, causing the leucine (L) at amino acid position 172 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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