ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.1588G>T (p.Gly530Trp)

gnomAD frequency: 0.00022  dbSNP: rs773943113
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000412741 SCV000490531 uncertain significance not provided 2017-04-25 criteria provided, single submitter clinical testing The G530W variant in the FLNB gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G530W variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G530W variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret G530W as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000412741 SCV001515039 likely benign not provided 2024-01-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480263 SCV002779062 uncertain significance Atelosteogenesis type III; Atelosteogenesis type I; Boomerang dysplasia; Spondylocarpotarsal synostosis syndrome; Larsen syndrome 2021-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002523908 SCV003681198 uncertain significance Inborn genetic diseases 2022-09-28 criteria provided, single submitter clinical testing The c.1588G>T (p.G530W) alteration is located in exon 10 (coding exon 10) of the FLNB gene. This alteration results from a G to T substitution at nucleotide position 1588, causing the glycine (G) at amino acid position 530 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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