ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.492C>T (p.Asn164=)

gnomAD frequency: 0.00001  dbSNP: rs762810555
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000231271 SCV000288088 likely benign Multiple endocrine neoplasia type 4 2023-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV001023277 SCV001185130 likely benign Hereditary cancer-predisposing syndrome 2018-03-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477817 SCV004220762 uncertain significance not provided 2023-02-06 criteria provided, single submitter clinical testing To the best of our knowledge, the variant has not been reported in the published literature. The frequency of this variant in the general population, 0.000044 (5/113716 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect CDKN1B mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.

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