ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.700-2A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV003226041 SCV003922128 uncertain significance Distal myopathy with posterior leg and anterior hand involvement 2023-05-02 criteria provided, single submitter curation The heterozygous c.700-2A>G variant in FLNC was identified by our study in one individual with distal myopathy. The c.700-2A>G variant in FLNC has not been previously identified in individuals with distal myopathy 4. This variant was absent from large population studies. This variant is located in the 5' splice region. Computational tools predict a splicing impact, though this information is not predictive enough to determine pathogenicity. Heterozygous loss of function is an established disease mechanism of distal myopathy 4. In summary, while there is some suspicion for a pathogenic role, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PVS1_Strong, PM2_Supporting (Richards 2015).

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