ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2050C>G (p.Leu684Val)

dbSNP: rs1284083461
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001366731 SCV001563045 uncertain significance Fanconi anemia 2020-10-02 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, but this prediction has not been confirmed by published transcriptional studies. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt FANCA protein function. This variant has not been reported in the literature in individuals with FANCA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with valine at codon 684 of the FANCA protein (p.Leu684Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine.

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