ClinVar Miner

Submissions for variant NM_021927.3(GUF1):c.1472_1476del (p.Leu491fs)

dbSNP: rs747316677
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001837259 SCV002097772 likely pathogenic Developmental and epileptic encephalopathy, 40 2021-01-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003728041 SCV004534940 uncertain significance not provided 2024-12-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu491Argfs*14) in the GUF1 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 GUF1 cause disease. This variant is present in population databases (rs747316677, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with GUF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1341779). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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