ClinVar Miner

Submissions for variant NM_000330.4(RS1):c.326+1159C>G

gnomAD frequency: 0.00001  dbSNP: rs587783160
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel RCV003235064 SCV003933690 likely benign CDKL5 disorder 2023-04-14 reviewed by expert panel curation RS1 (NM_000330.4) and an alternative transcript of CDKL5 (NM_003159.2) are overlapping transcripts; however, these variants are in the non-coding 3' region of the main CDKL5 transcript (NM_ 001323289.2). The c.2739 G>C (p.Gln913His) variant in CDKL5 transcript (NM_003159.3) (RS1 c.326+1159 C>G) is observed in at least 2 unaffected individuals (GeneDx and Invitae internal databases) (BS2). Computational analysis prediction tools suggest that the c.2739 G>C variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). In summary, the c.2739 G>C variant in the alternate CDKL5 transcript (NM_003159.3) is classified as likely benign based on the ACMG/AMP criteria (BS2, BP4).
GeneDx RCV001704065 SCV000191078 likely benign not provided 2018-04-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764871 SCV000896027 uncertain significance Developmental and epileptic encephalopathy, 2 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001202850 SCV001373981 likely benign Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2023-10-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004544331 SCV004764735 likely benign CDKL5-related disorder 2023-09-25 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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