ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.467G>A (p.Arg156Gln)

gnomAD frequency: 0.00011  dbSNP: rs370610759
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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 RCV001038050 SCV001201492 uncertain significance Familial hemophagocytic lymphohistiocytosis 3 2022-07-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 156 of the UNC13D protein (p.Arg156Gln). This variant is present in population databases (rs370610759, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with UNC13D-related conditions. ClinVar contains an entry for this variant (Variation ID: 836840). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV003480912 SCV004224430 uncertain significance not provided 2023-04-13 criteria provided, single submitter clinical testing BP4

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