ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.2174A>G (p.Glu725Gly)

gnomAD frequency: 0.00005  dbSNP: rs757899809
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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 RCV000702126 SCV000830962 uncertain significance Familial hemophagocytic lymphohistiocytosis 3 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 725 of the UNC13D protein (p.Glu725Gly). This variant is present in population databases (rs757899809, gnomAD 0.008%). This missense change has been observed in individual(s) with hemophagocytic lymphohistiocytosis (PMID: 21881043). ClinVar contains an entry for this variant (Variation ID: 578964). 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: "Probably Damaging"; 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.

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