ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.407C>A (p.Thr136Asn)

dbSNP: rs1848955065
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001229078 SCV001401511 uncertain significance Beckwith-Wiedemann syndrome 2021-09-23 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with CDKN1C-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces threonine with asparagine at codon 147 of the CDKN1C protein (p.Thr147Asn). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and asparagine.
Baylor Genetics RCV001229078 SCV004212434 uncertain significance Beckwith-Wiedemann syndrome 2023-10-20 criteria provided, single submitter clinical testing

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