ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.857G>A (p.Arg286Gln)

gnomAD frequency: 0.00005  dbSNP: rs139155193
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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 RCV001036893 SCV001200281 uncertain significance Familial hemophagocytic lymphohistiocytosis 3 2022-08-06 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 286 of the UNC13D protein (p.Arg286Gln). This variant is present in population databases (rs139155193, 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: 835897). 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"). 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.
Ambry Genetics RCV004031009 SCV004975441 uncertain significance Inborn genetic diseases 2024-01-19 criteria provided, single submitter clinical testing The c.857G>A (p.R286Q) alteration is located in exon 10 (coding exon 10) of the UNC13D gene. This alteration results from a G to A substitution at nucleotide position 857, causing the arginine (R) at amino acid position 286 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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