ClinVar Miner

Submissions for variant NM_001099403.2(PRDM8):c.1511_1531dup (p.Gln510_Leu511insProAlaArgSerPheSerGln)

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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 RCV002942431 SCV003269348 uncertain significance Early-onset Lafora body disease 2022-03-04 criteria provided, single submitter clinical testing This variant, c.1511_1531dup, results in the insertion of 7 amino acid(s) of the PRDM8 protein (p.Pro504_Gln510dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PRDM8-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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