ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.791+4G>T

gnomAD frequency: 0.00002  dbSNP: rs766952918
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000798304 SCV000937911 uncertain significance Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 2023-12-11 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the WWOX gene. It does not directly change the encoded amino acid sequence of the WWOX protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs766952918, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with WWOX-related conditions. ClinVar contains an entry for this variant (Variation ID: 644398). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252238 SCV002523292 uncertain significance See cases 2019-10-09 criteria provided, single submitter clinical testing ACMG classification criteria: PM2

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