ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.1402C>T (p.Arg468Cys)

gnomAD frequency: 0.00002  dbSNP: rs139664696
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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 RCV001880665 SCV002138335 likely benign not provided 2025-01-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538565 SCV004117490 uncertain significance FLNB-related disorder 2023-07-18 criteria provided, single submitter clinical testing The FLNB c.1402C>T variant is predicted to result in the amino acid substitution p.Arg468Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0080% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-58087986-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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