ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.1606C>G (p.Arg536Gly)

dbSNP: rs780530249
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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 RCV001346297 SCV001540481 uncertain significance Familial hemophagocytic lymphohistiocytosis 3 2021-02-26 criteria provided, single submitter clinical testing 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. 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"). This variant has not been reported in the literature in individuals with UNC13D-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with glycine at codon 536 of the UNC13D protein (p.Arg536Gly). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and glycine.

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