ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.102_113del (p.Gly39_Gly42del)

dbSNP: rs1053480508
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001343570 SCV001537558 uncertain significance PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 2023-12-14 criteria provided, single submitter clinical testing This variant, c.102_113del, results in the deletion of 4 amino acid(s) of the PURA protein (p.Gly39_Gly42del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with PURA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1040000). 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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