ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.603G>T (p.Leu201Phe)

gnomAD frequency: 0.00004  dbSNP: rs188212047
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001129152 SCV001288655 likely benign Familial hemophagocytic lymphohistiocytosis 5 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001129152 SCV001568052 uncertain significance Familial hemophagocytic lymphohistiocytosis 5 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 201 of the STXBP2 protein (p.Leu201Phe). This variant is present in population databases (rs188212047, gnomAD 0.1%). This missense change has been observed in individual(s) with hemophagocytic lymphohistiocytosis (PMID: 26451869). ClinVar contains an entry for this variant (Variation ID: 892710). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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