ClinVar Miner

Submissions for variant NM_005148.4(UNC119):c.362T>C (p.Leu121Pro)

dbSNP: rs1436225955
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001238460 SCV001411272 uncertain significance not provided 2023-05-21 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 121 of the UNC119 protein (p.Leu121Pro). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 964270). This variant has not been reported in the literature in individuals affected with UNC119-related conditions. This variant is not present in population databases (gnomAD no frequency).

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