Submissions for variant NM_000426.4(LAMA2):c.2264_2275del (p.Glu755_Cys759delinsGly)

gnomAD frequency: 0.00001  dbSNP: rs1307580344

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001309324	SCV001498819	uncertain significance	LAMA2-related muscular dystrophy	2024-01-15	criteria provided, single submitter	clinical testing	This variant, c.2264_2275del, is a complex sequence change that results in the deletion of 5 and insertion of 1 amino acid(s) in the LAMA2 protein (p.Glu755_Cys759delinsGly). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LAMA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1011515). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur	RCV005232255	SCV005880256	likely pathogenic	Muscular dystrophy, limb-girdle, autosomal recessive 23	2024-02-27	criteria provided, single submitter	clinical testing	NM_000426.4:c.5087del in the same patient