ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.109G>A (p.Asp37Asn)

dbSNP: rs1946488666
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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 RCV001312928 SCV001503402 uncertain significance Multiple endocrine neoplasia type 4 2020-08-20 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 have shown that this variant does not substantially affect CDKN1B protein function (PMID: 28425505). This variant has not been reported in the literature in individuals with CDKN1B-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with asparagine at codon 37 of the CDKN1B protein (p.Asp37Asn). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and asparagine.

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