ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.3224G>T (p.Arg1075Leu)

dbSNP: rs377594755
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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 RCV001205090 SCV001376326 uncertain significance Familial hemophagocytic lymphohistiocytosis 3 2022-06-26 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 1075 of the UNC13D protein (p.Arg1075Leu). 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 primary immunodeficiency (PMID: 32135276). ClinVar contains an entry for this variant (Variation ID: 936314). 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: "Possibly Damaging"; 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.
CeGaT Center for Human Genetics Tuebingen RCV003883576 SCV004701305 uncertain significance not provided 2024-01-01 criteria provided, single submitter clinical testing UNC13D: PM2, PP4

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