ClinVar Miner

Submissions for variant NM_001099403.2(PRDM8):c.1426G>A (p.Gly476Ser)

gnomAD frequency: 0.00001  dbSNP: rs1157815573
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000816182 SCV000956677 uncertain significance Early-onset Lafora body disease 2020-09-01 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with PRDM8-related conditions. ClinVar contains an entry for this variant (Variation ID: 659215). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces glycine with serine at codon 476 of the PRDM8 protein (p.Gly476Ser). The glycine residue is weakly conserved and there is a small physicochemical difference between glycine and serine.

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