ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.4819C>T (p.Arg1607Ter)

gnomAD frequency: 0.00001  dbSNP: rs80356520
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV000006769 SCV001441552 likely pathogenic Spondylocarpotarsal synostosis syndrome 2020-10-26 criteria provided, single submitter clinical testing This FLNB variant (rs80356520) is rare (<0.1%) in a large population dataset (9/249754 total alleles; 0.004%; no homozygotes) and has an entry in ClinVar. This variant has been reported previously in a compound heterozygous state in an individual affected with SCT. This nonsense variant results in a premature stop codon in exon 28 of 46 likely leading to nonsense-mediated decay and lack of protein production. This variant alone is not expected to cause SCT. We consider c.4819C>T to be likely pathogenic.
OMIM RCV000006769 SCV000026961 pathogenic Spondylocarpotarsal synostosis syndrome 2004-04-01 no assertion criteria provided literature only
GeneReviews RCV000006769 SCV000040869 not provided Spondylocarpotarsal synostosis syndrome no assertion provided literature only

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