ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.2137G>A (p.Gly713Ser)

gnomAD frequency: 0.00004  dbSNP: rs115353346
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001221975 SCV001394052 uncertain significance Familial hemophagocytic lymphohistiocytosis 3 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 713 of the UNC13D protein (p.Gly713Ser). 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 variant has not been reported in the literature in individuals affected with UNC13D-related conditions. ClinVar contains an entry for this variant (Variation ID: 950291). 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"). 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264231 SCV002543148 uncertain significance Autoinflammatory syndrome 2021-02-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001221975 SCV002784797 uncertain significance Familial hemophagocytic lymphohistiocytosis 3 2022-03-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002562543 SCV003528081 uncertain significance Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing The c.2137G>A (p.G713S) alteration is located in exon 23 (coding exon 23) of the UNC13D gene. This alteration results from a G to A substitution at nucleotide position 2137, causing the glycine (G) at amino acid position 713 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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