ClinVar Miner

Submissions for variant NM_001099403.2(PRDM8):c.1573C>G (p.Pro525Ala)

dbSNP: rs575215294
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652743 SCV000774614 uncertain significance Early-onset Lafora body disease 2021-10-27 criteria provided, single submitter clinical testing This sequence change replaces proline, a(n) neutral and non-polar amino acid, with alanine, a(n) neutral and non-polar amino acid, at codon 525 of the PRDM8 protein (p.Pro525Ala). This variant is present in population databases (rs575215294, gnomAD 0.06%), 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 PRDM8-related conditions. ClinVar contains an entry for this variant (Variation ID: 542339). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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