ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr) (rs62641235)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000080068 SCV000190942 pathogenic not provided 2016-01-21 criteria provided, single submitter clinical testing Ile72Thr was previously reported as a de novo mutation in a female with infantile spasms, intractable seizures, severe intellectual disability, and precocious puberty (Saletti et al., 2009; Russo et al., 2009). A different missense substitution at the same position, Ile72Asn, has also been identified in two unrelated females with atypical Rett syndrome (Evans et al., 2005; Pini et al., 2012). Ile72Thr alters a highly conserved residue in the catalytic domain of the protein. The variant is found in INFANT-EPI panel(s).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080068 SCV000231043 pathogenic not provided 2015-03-10 criteria provided, single submitter clinical testing
OMIM RCV000012258 SCV000032492 pathogenic Early infantile epileptic encephalopathy 2 2009-05-01 no assertion criteria provided literature only
RettBASE RCV000169913 SCV000188354 pathogenic Rett syndrome 2016-04-26 no assertion criteria provided research

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