ClinVar Miner

Submissions for variant NM_001099403.2(PRDM8):c.1691G>C (p.Ser564Thr)

gnomAD frequency: 0.00001  dbSNP: rs753837771
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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 RCV001035537 SCV001198866 uncertain significance Early-onset Lafora body disease 2022-11-21 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 834785). This variant has not been reported in the literature in individuals affected with PRDM8-related conditions. This variant is present in population databases (rs753837771, gnomAD 0.03%). This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 564 of the PRDM8 protein (p.Ser564Thr).

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