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

gnomAD frequency: 0.00001  dbSNP: rs80356520

Total submissions: 4

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
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital	RCV000006769	SCV005045306	pathogenic	Spondylocarpotarsal synostosis syndrome	2024-02-01	no assertion criteria provided	clinical testing