ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.553_554delinsTT (p.Ala185Leu)

dbSNP: rs1590149719
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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 RCV000819282 SCV000959932 uncertain significance Beckwith-Wiedemann syndrome 2023-04-07 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 661787). 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 gnomAD database. This sequence change replaces alanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 196 of the CDKN1C protein (p.Ala196Leu).

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