Submissions for variant NM_005560.6(LAMA5):c.8792+4C>T

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002919107	SCV003262627	uncertain significance	not provided	2022-07-03	criteria provided, single submitter	clinical testing	This sequence change falls in intron 64 of the LAMA5 gene. It does not directly change the encoded amino acid sequence of the LAMA5 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs373177574, gnomAD 0.08%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with LAMA5-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Center for Human Genetics Tuebingen	RCV002919107	SCV004150774	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	LAMA5: BP4