ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.169G>A (p.Glu57Lys)

gnomAD frequency: 0.00001  dbSNP: rs767617631
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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 RCV001038916 SCV001202417 uncertain significance Familial hemophagocytic lymphohistiocytosis 3 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 57 of the UNC13D protein (p.Glu57Lys). This variant is present in population databases (rs767617631, gnomAD 0.003%). This missense change has been observed in individual(s) with clinical features of hemophagocytic lymphohistiocytosis (PMID: 30899265). ClinVar contains an entry for this variant (Variation ID: 837554). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt UNC13D protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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