ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5340delinsTGGAATCACT (p.Lys1780delinsAsnGlyIleThr)

dbSNP: rs1889624694
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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 RCV001244416 SCV001417636 uncertain significance Fanconi anemia 2022-07-24 criteria provided, single submitter clinical testing Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.5340delinsTGGAATCACT, is a complex sequence change that results in the deletion of 1 amino acid and insertion of 4 amino acid(s) in the FANCM protein (p.Lys1780delinsAsnGlyIleThr). This variant also falls at the last nucleotide of exon 20, which is part of the consensus splice site for this exon. 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004998767 SCV005626324 uncertain significance not provided 2024-07-03 criteria provided, single submitter clinical testing The FANCM c.5340delinsTGGAATCACT (p.Lys1780delinsAsnGlyIleThr) variant has not been reported in individuals with FANCM-related conditions in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant may affect proper FANCM mRNA splicing. Based on the available information, we are unable to determine the clinical significance of this variant.

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