ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.84G>A (p.Val28=)

dbSNP: rs1461154048
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001174607 SCV001337801 likely benign not specified 2020-01-22 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001179935 SCV001344738 likely benign Hereditary cancer-predisposing syndrome 2022-12-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068121 SCV002327520 likely benign Familial melanoma 2023-08-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV001179935 SCV002678535 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-08 criteria provided, single submitter clinical testing The c.84G>A variant (also known as p.V28V) is located in coding exon 1 of the CDKN2A gene. This variant results from a G to A substitution at nucleotide position 84. This nucleotide substitution does not change the valine at codon 28. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice donor site; however, direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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