ClinVar Miner

Submissions for variant NM_003620.4(PPM1D):c.1273_1274insT (p.Asp425fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Motol Hospital RCV004995669 SCV005619949 likely pathogenic Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 2025-01-07 criteria provided, single submitter clinical testing This variant was detected in a female with facial abnormalities (large forehead, triangular-shaped open mouth, dental abnormalities), single transverse palmar crease, 2-3 toe syndactyly, global developmental delay, delayed speech and language development, sleep disturbance. This variant was found to be of a de novo origin. Rare truncating variants affecting the PPM1D gene are documented as a molecular cause of "Jansen-de Vries syndrome" (JDVS; OMIM:617450; PMID:28343630;30795918;29758292;37183572). The variant is located within the mutation hotspot of the exon 6 of the PPM1D gene. To conclude, the variant is classified as likely pathogenic (ACMG PVS1, PM2, PS2).

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