ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.4730C>T (p.Ala1577Val)

gnomAD frequency: 0.00043  dbSNP: rs148101195
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520108 SCV000616727 uncertain significance not provided 2017-08-11 criteria provided, single submitter clinical testing The A1577V variant in the FLNB gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A1577V variant is observed in 12/10340 (0.12%) alleles from individuals of African background, in the ExAC dataset (Lek et al., 2016). The A1577V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret A1577V as a variant of uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002476050 SCV002780165 uncertain significance Atelosteogenesis type III; Atelosteogenesis type I; Boomerang dysplasia; Spondylocarpotarsal synostosis syndrome; Larsen syndrome 2021-07-24 criteria provided, single submitter clinical testing
Invitae RCV000520108 SCV003267438 benign not provided 2023-10-17 criteria provided, single submitter clinical testing

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