ClinVar Miner

Submissions for variant NM_020066.5(FMN2):c.4068T>C (p.Val1356=)

gnomAD frequency: 0.00058  dbSNP: rs141335669
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500550 SCV000594849 uncertain significance not specified 2017-03-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000913044 SCV001058182 likely benign not provided 2018-03-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000500550 SCV005203292 uncertain significance not specified 2024-07-08 criteria provided, single submitter clinical testing Variant summary: FMN2 c.4068T>C (p.Val1356Val) alters a conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00015 in 250484 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in FMN2 causing Intellectual Disability, Autosomal Recessive 47, allowing no conclusion about variant significance. To our knowledge, no occurrence of c.4068T>C in individuals affected with Intellectual Disability, Autosomal Recessive 47 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 435234). Based on the evidence outlined above, the variant was classified as uncertain significance.
PreventionGenetics, part of Exact Sciences RCV003902773 SCV004721726 likely benign FMN2-related disorder 2021-01-20 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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