ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.827C>G (p.Ser276Trp)

dbSNP: rs928007699
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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 RCV000691912 SCV000819711 uncertain significance Beckwith-Wiedemann syndrome 2021-03-23 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 with CDKN1C-related disease. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces serine with tryptophan at codon 287 of the CDKN1C protein (p.Ser287Trp). The serine residue is weakly conserved and there is a large physicochemical difference between serine and tryptophan.

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