ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.2800G>A (p.Ala934Thr)

gnomAD frequency: 0.00001  dbSNP: rs534473771
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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 RCV001319387 SCV001510129 uncertain significance Familial hemophagocytic lymphohistiocytosis 3 2024-06-04 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 934 of the UNC13D protein (p.Ala934Thr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with hemophagocytic lymphohistiocytosis (PMID: 34170459). ClinVar contains an entry for this variant (Variation ID: 1019885). 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 expected to disrupt UNC13D protein function with a positive predictive value of 80%. 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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