Submissions for variant NM_001854.4(COL11A1):c.4554+1G>C

dbSNP: rs886044244

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000301688	SCV000344118	pathogenic	not provided	2016-08-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000301688	SCV001577300	likely pathogenic	not provided	2021-08-03	criteria provided, single submitter	clinical testing	In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 289715). Disruption of this splice site has been observed in individual(s) with clinical features of Stickler syndrome (PMID: 25240749). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 61 of the COL11A1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in COL11A1 are known to be pathogenic (PMID: 20513134, 21035103, 23922384, 25240749, 32427345, 32756486).
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes	RCV001778881	SCV002016311	likely pathogenic	Neurodevelopmental disorder	2021-09-16	criteria provided, single submitter	clinical testing
Autoinflammatory diseases unit, CHU de Montpellier	RCV004767219	SCV005382004	likely pathogenic	Stickler syndrome type 2	2024-08-20	no assertion criteria provided	clinical testing