ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.45C>T (p.Arg15=)

gnomAD frequency: 0.00002  dbSNP: rs1360965916
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000628590 SCV000749492 likely benign Beckwith-Wiedemann syndrome 2024-01-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003392464 SCV004120945 uncertain significance CDKN1C-related condition 2022-10-12 criteria provided, single submitter clinical testing The CDKN1C c.78C>T variant is not predicted to result in an amino acid change (p.=). This variant is predicted to interfere with splicing. To our knowledge, this variant has not been reported in the literature. It was observed in 1 out of ~31390 alleles in gnomAD (https://gnomad.broadinstitute.org/variant/11-2906642-G-A). In ClinVar, this variant is interpreted as likely benign (https://preview.ncbi.nlm.nih.gov/clinvar/variation/524736/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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