ClinVar Miner

Submissions for variant NM_001099403.2(PRDM8):c.736C>T (p.Pro246Ser)

dbSNP: rs1330185577
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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 RCV001372862 SCV001569553 uncertain significance Early-onset Lafora body disease 2023-05-22 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1063061). This variant has not been reported in the literature in individuals affected with PRDM8-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 246 of the PRDM8 protein (p.Pro246Ser). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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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