ClinVar Miner

Submissions for variant NM_001099403.2(PRDM8):c.1450G>A (p.Gly484Ser)

gnomAD frequency: 0.00004  dbSNP: rs1014065137
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706130 SCV000835162 uncertain significance Early-onset Lafora body disease 2020-01-23 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PRDM8-related disease. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces glycine with serine at codon 484 of the PRDM8 protein (p.Gly484Ser). The glycine residue is weakly conserved and there is a small physicochemical difference between glycine and serine.

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