Submissions for variant NM_020937.4(FANCM):c.1155C>T (p.Phe385=)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV003233158	SCV003930975	uncertain significance	not provided	2022-12-12	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp	RCV003636007	SCV004548196	uncertain significance	Fanconi anemia	2023-02-22	criteria provided, single submitter	clinical testing	This variant is present in population databases (rs754592572, gnomAD 0.007%). This sequence change affects codon 385 of the FANCM mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FANCM protein. This variant has not been reported in the literature in individuals affected with FANCM-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.