Submissions for variant NM_003638.3(ITGA8):c.2982+2T>C

dbSNP: rs587777279

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Molecular Biology Laboratory, Fundació Puigvert	RCV000114393	SCV001425104	pathogenic	Renal hypodysplasia/aplasia 1	2020-02-01	criteria provided, single submitter	research
Labcorp Genetics (formerly Invitae), Labcorp	RCV001854534	SCV002261872	likely pathogenic	not provided	2021-07-31	criteria provided, single submitter	clinical testing	This sequence change affects a donor splice site in intron 28 of the ITGA8 gene. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product. 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. Studies have shown that this variant is associated with skipping of exon 28 but is expected to preserve the integrity of the reading frame (PMID: 24700879). This variant has been observed in individual(s) with clinical features of ITGA8-related conditions (PMID: 24439109, 24700879, 33532864). ClinVar contains an entry for this variant (Variation ID: 126498). This variant is not present in population databases (ExAC no frequency).
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	RCV000114393	SCV002764739	pathogenic	Renal hypodysplasia/aplasia 1	2021-04-22	criteria provided, single submitter	clinical testing
OMIM	RCV000114393	SCV000148094	pathogenic	Renal hypodysplasia/aplasia 1	2014-02-06	no assertion criteria provided	literature only