ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.1193C>T (p.Ser398Leu)

dbSNP: rs747756030
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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 RCV001218865 SCV001390770 uncertain significance Familial hemophagocytic lymphohistiocytosis 3 2019-05-23 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 398 of the UNC13D protein (p.Ser398Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs747756030, ExAC 0.002%). This variant has been observed in an individual affected with hemophagocytic lymphohistiocytosis (PMID: 21248318). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
3billion RCV001218865 SCV002058394 uncertain significance Familial hemophagocytic lymphohistiocytosis 3 2022-01-03 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000004, PM2_M). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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