ClinVar Miner

Submissions for variant NM_005148.4(UNC119):c.487G>T (p.Glu163Ter)

dbSNP: rs930130211
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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 RCV001990922 SCV002260958 uncertain significance not provided 2024-04-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu163*) in the UNC119 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in UNC119 cause disease. This variant is present in population databases (no rsID available, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with clinical features of UNC119-related conditions (PMID: 35874679). ClinVar contains an entry for this variant (Variation ID: 1479318). 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.

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