ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.10G>A (p.Ala4Thr)

dbSNP: rs2131114193
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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 RCV002015968 SCV002295587 uncertain significance Familial melanoma 2021-03-29 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in individual(s) with melanoma (PMID:28830827, 21462282). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with threonine at codon 4 of the CDKN2A (p16INK4a) protein (p.Ala4Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine.

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