ClinVar Miner

Submissions for variant NM_001277313.2(FMN1):c.382C>T (p.Pro128Ser)

gnomAD frequency: 0.00058  dbSNP: rs558962614
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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 RCV003548237 SCV004267509 uncertain significance not provided 2025-01-12 criteria provided, single submitter clinical testing The FMN1 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_001277314.1, and corresponds to NM_001103184.3:c.-86649C>T in the primary transcript. This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 128 of the FMN1 protein (p.Pro128Ser). This variant is present in population databases (rs558962614, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with FMN1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
PreventionGenetics, part of Exact Sciences RCV003919262 SCV004733182 likely benign FMN1-related disorder 2023-12-05 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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