ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.1867C>A (p.Leu623Met)

dbSNP: rs1461192239
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001216245 SCV001388032 uncertain significance Familial hemophagocytic lymphohistiocytosis 3 2019-07-04 criteria provided, single submitter clinical testing This sequence change replaces leucine with methionine at codon 623 of the UNC13D protein (p.Leu623Met). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with UNC13D-related conditions. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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