Submissions for variant NM_020937.4(FANCM):c.6099A>G (p.Gln2033=)

gnomAD frequency: 0.00002  dbSNP: rs757734261

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001922571	SCV002176306	uncertain significance	Fanconi anemia	2021-07-02	criteria provided, single submitter	clinical testing	This sequence change affects codon 2033 of the FANCM mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FANCM protein. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant is present in population databases (rs757734261, ExAC 0.01%).
PreventionGenetics, part of Exact Sciences	RCV004542163	SCV004799974	likely benign	FANCM-related disorder	2023-10-26	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).