ClinVar Miner

Submissions for variant NM_058195.4(CDKN2A):c.23C>G (p.Thr8Ser)

dbSNP: rs1820536698
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001052420 SCV001216630 uncertain significance Familial melanoma 2021-07-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002445278 SCV002732555 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-28 criteria provided, single submitter clinical testing The p.T8S variant (also known as c.23C>G), located in coding exon 1 of the CDKN2A gene, results from a C to G substitution at nucleotide position 23. The threonine at codon 8 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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