ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.1556T>C (p.Ile519Thr)

gnomAD frequency: 0.00001  dbSNP: rs1402195363
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002031166 SCV002313959 uncertain significance Familial hemophagocytic lymphohistiocytosis 3 2022-08-10 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 519 of the UNC13D protein (p.Ile519Thr). This variant is present in population databases (no rsID available, gnomAD 0.002%). 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: 1521235). 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.
Genetics and Molecular Pathology, SA Pathology RCV002031166 SCV002556949 uncertain significance Familial hemophagocytic lymphohistiocytosis 3 2020-08-28 criteria provided, single submitter clinical testing PM2
Ambry Genetics RCV002548984 SCV003744723 uncertain significance Inborn genetic diseases 2021-07-09 criteria provided, single submitter clinical testing The c.1556T>C (p.I519T) alteration is located in exon 18 (coding exon 18) of the UNC13D gene. This alteration results from a T to C substitution at nucleotide position 1556, causing the isoleucine (I) at amino acid position 519 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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