ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.2244A>G (p.Gln748=)

gnomAD frequency: 0.00001  dbSNP: rs751605791
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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 RCV001341324 SCV001535192 uncertain significance Fanconi anemia 2023-03-03 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1038067). 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 sequence change affects codon 748 of the FANCM mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FANCM protein.
Genetic Services Laboratory, University of Chicago RCV001820040 SCV002070558 uncertain significance not specified 2021-08-25 criteria provided, single submitter clinical testing DNA sequence analysis of the FANCM gene demonstrated a sequence change, c.2244A>G, in exon 13 which does not result in an amino acid change. This sequence change does not appear to have been previously described in patients with FANCM-related disorders and has not been described in the population databases such as ExAC and gnomAD (dbSNP rs751605791). This sequence change is predicted to have a deleterious effect (may create or strengthen a splice site) on splicing based on in silico splice prediction programs. This sequence change is not clearly predicted to have a deleterious effect on splicing based on in silico splice prediction programs. As the c.2244A>G sequence change does not result in a change in the FANCM amino acid sequence, it is possible that this change is non-pathogenic and represents a benign sequence variant of the FANCM gene, however functional studies have not been performed to prove this conclusively. The functional significance of this sequence change is not known at present and its contribution to this patient's disease phenotype cannot definitively be determined.

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