ClinVar Miner

Submissions for variant NM_001099403.2(PRDM8):c.14G>A (p.Gly5Asp)

gnomAD frequency: 0.00005  dbSNP: rs372824214
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001213248 SCV001384870 uncertain significance Early-onset Lafora body disease 2022-10-13 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PRDM8 protein function. ClinVar contains an entry for this variant (Variation ID: 943120). This variant has not been reported in the literature in individuals affected with PRDM8-related conditions. This variant is present in population databases (rs372824214, gnomAD 0.03%). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 5 of the PRDM8 protein (p.Gly5Asp).

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