Submissions for variant NM_001457.4(FLNB):c.2452C>T (p.Arg818Ter)

gnomAD frequency: 0.00001  dbSNP: rs80356519

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003555947	SCV004293108	pathogenic	not provided	2023-03-04	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 6396). This premature translational stop signal has been observed in individual(s) with spondylocarpotarsal synostosis syndrome (PMID: 14991055). This variant is present in population databases (rs80356519, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg818*) in the FLNB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FLNB are known to be pathogenic (PMID: 14991055).
OMIM	RCV000006768	SCV000026960	pathogenic	Spondylocarpotarsal synostosis syndrome	2004-04-01	no assertion criteria provided	literature only
GeneReviews	RCV000006768	SCV000040860	not provided	Spondylocarpotarsal synostosis syndrome		no assertion provided	literature only
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital	RCV000006768	SCV005045304	pathogenic	Spondylocarpotarsal synostosis syndrome	2024-02-01	no assertion criteria provided	clinical testing