ClinVar Miner

Submissions for variant NM_004064.4(CDKN1B):c.3G>A (p.Met1Ile) (rs756190836)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551866 SCV000646218 uncertain significance Multiple endocrine neoplasia, type 4 2019-11-21 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the CDKN1B mRNA. The next in-frame methionine is located at codon 16. This variant is present in population databases (rs756190836, ExAC 0.009%). This variant has not been reported in the literature in individuals with CDKN1B-related disease. ClinVar contains an entry for this variant (Variation ID: 469024). Functional studies for this variant have not been reported and the clinical significance of the amino acids located between the start codon and the next in-frame methionine is unknown. 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.

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