ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.3158C>T (p.Pro1053Leu)

gnomAD frequency: 0.00001  dbSNP: rs2062136435
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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 RCV001938627 SCV002190803 uncertain significance Familial hemophagocytic lymphohistiocytosis 3 2022-03-28 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1053 of the UNC13D protein (p.Pro1053Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with UNC13D-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002557769 SCV003551020 uncertain significance Inborn genetic diseases 2022-12-23 criteria provided, single submitter clinical testing The c.3158C>T (p.P1053L) alteration is located in exon 32 (coding exon 32) of the UNC13D gene. This alteration results from a C to T substitution at nucleotide position 3158, causing the proline (P) at amino acid position 1053 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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