ClinVar Miner

Submissions for variant NM_001761.3(CCNF):c.257G>A (p.Gly86Glu)

gnomAD frequency: 0.00015  dbSNP: rs143974143
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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 RCV000983465 SCV001131487 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004030081 SCV004921664 uncertain significance not specified 2023-11-06 criteria provided, single submitter clinical testing The c.257G>A (p.G86E) alteration is located in exon 3 (coding exon 3) of the CCNF gene. This alteration results from a G to A substitution at nucleotide position 257, causing the glycine (G) at amino acid position 86 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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