ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.733G>A (p.Ala245Thr)

dbSNP: rs1848918918
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001351533 SCV001546013 uncertain significance Beckwith-Wiedemann syndrome 2020-07-12 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 with CDKN1C-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with threonine at codon 256 of the CDKN1C protein (p.Ala256Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine.

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