ClinVar Miner

Submissions for variant NM_001099403.2(PRDM8):c.1966C>T (p.Pro656Ser)

gnomAD frequency: 0.00001  dbSNP: rs200471159
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000815601 SCV000956062 uncertain significance Early-onset Lafora body disease 2021-12-09 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 656 of the PRDM8 protein (p.Pro656Ser). This variant is present in population databases (rs200471159, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with PRDM8-related conditions. ClinVar contains an entry for this variant (Variation ID: 658722). 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"). 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.
Ambry Genetics RCV004028859 SCV005012437 uncertain significance not specified 2023-12-21 criteria provided, single submitter clinical testing The c.1966C>T (p.P656S) alteration is located in exon 10 (coding exon 3) of the PRDM8 gene. This alteration results from a C to T substitution at nucleotide position 1966, causing the proline (P) at amino acid position 656 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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