ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.443C>A (p.Ala148Asp)

dbSNP: rs372633
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703082 SCV000831964 uncertain significance Beckwith-Wiedemann syndrome 2021-09-17 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 alanine with aspartic acid at codon 159 of the CDKN1C protein (p.Ala159Asp). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and aspartic acid.

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