ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.190G>A (p.Val64Met)

gnomAD frequency: 0.00002  dbSNP: rs370865340
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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 RCV000791617 SCV000930875 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2021-12-15 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 64 of the UNC93B1 protein (p.Val64Met). 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 variant has not been reported in the literature in individuals affected with UNC93B1-related conditions. ClinVar contains an entry for this variant (Variation ID: 638935). 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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