ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.425_442dup (p.Val142_Pro147dup)

dbSNP: rs1443296311
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001052754 SCV001216979 uncertain significance Beckwith-Wiedemann syndrome 2023-12-27 criteria provided, single submitter clinical testing This variant, c.458_475dup, results in the insertion of 6 amino acid(s) of the CDKN1C protein (p.Val153_Pro158dup), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with CDKN1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 848902). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. RNA analysis performed to evaluate the impact of this variant on mRNA splicing indicates it does not significantly alter splicing (Invitae). 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.
GeneDx RCV001759790 SCV001988482 uncertain significance not provided 2019-04-18 criteria provided, single submitter clinical testing In-frame insertion of 6 amino acids in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002481969 SCV002792263 uncertain significance Beckwith-Wiedemann syndrome; IMAGe syndrome 2021-10-27 criteria provided, single submitter clinical testing

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