ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.216C>T (p.Gly72=)

gnomAD frequency: 0.00004  dbSNP: rs776643344
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000806095 SCV000946076 likely benign Multiple endocrine neoplasia type 4 2024-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV001014630 SCV001175362 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-17 criteria provided, single submitter clinical testing The c.216C>T variant (also known as p.G72G), located in coding exon 1, results from a C to T substitution at nucleotide position 216 of the CDKN1B gene. This nucleotide substitution does not change the amino acid at codon 72. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice donor site. RNA studies have demonstrated that this alteration results in an incomplete splice defect; the clinical impact of this abnormal splicing is unknown at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Sema4, Sema4 RCV001014630 SCV002535473 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-01 criteria provided, single submitter curation
Baylor Genetics RCV000806095 SCV004212423 uncertain significance Multiple endocrine neoplasia type 4 2023-05-10 criteria provided, single submitter clinical testing

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