ClinVar Miner

Submissions for variant NM_001761.3(CCNF):c.1866G>T (p.Glu622Asp)

gnomAD frequency: 0.00001  dbSNP: rs1233772088
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004261981 SCV003889953 uncertain significance not specified 2023-03-06 criteria provided, single submitter clinical testing The c.1866G>T (p.E622D) alteration is located in exon 16 (coding exon 16) of the CCNF gene. This alteration results from a G to T substitution at nucleotide position 1866, causing the glutamic acid (E) at amino acid position 622 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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