ClinVar Miner

Submissions for variant NM_001099403.2(PRDM8):c.543A>T (p.Arg181Ser)

gnomAD frequency: 0.00001  dbSNP: rs377755509
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685135 SCV000812608 uncertain significance Early-onset Lafora body disease 2020-01-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with PRDM8-related disease. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is present in population databases (rs377755509, ExAC 0.002%). This sequence change replaces arginine with serine at codon 181 of the PRDM8 protein (p.Arg181Ser). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and serine.

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