ClinVar Miner

Submissions for variant NM_001037333.3(CYFIP2):c.3186C>G (p.Ile1062Met)

dbSNP: rs747475869
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV002086740 SCV002320757 uncertain significance Developmental and epileptic encephalopathy, 65 2022-01-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002086739 SCV002389286 likely benign not provided 2024-08-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002552345 SCV003530753 uncertain significance Inborn genetic diseases 2021-11-09 criteria provided, single submitter clinical testing The c.3186C>G (p.I1062M) alteration is located in exon 28 (coding exon 27) of the CYFIP2 gene. This alteration results from a C to G substitution at nucleotide position 3186, causing the isoleucine (I) at amino acid position 1062 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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