ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.1607G>T (p.Arg536Leu)

dbSNP: rs143305366
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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 RCV000559060 SCV000638945 uncertain significance Familial hemophagocytic lymphohistiocytosis 3 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 536 of the UNC13D protein (p.Arg536Leu). This variant is present in population databases (rs143305366, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of Hemophagocytic lymphohistiocytosis (PMID: 29665027, 30220951). ClinVar contains an entry for this variant (Variation ID: 464452). 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). 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.
GeneDx RCV004812326 SCV005437506 uncertain significance not provided 2024-06-15 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 34170459, 29665027, 33867526, 30220951)

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