Submissions for variant NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter)

gnomAD frequency: 0.00001  dbSNP: rs200923373

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000665977	SCV000790200	likely pathogenic	Merosin deficient congenital muscular dystrophy	2017-03-08	criteria provided, single submitter	clinical testing
Invitae	RCV000696321	SCV000824876	pathogenic	LAMA2-related muscular dystrophy	2023-11-14	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg1450*) in the LAMA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LAMA2 are known to be pathogenic (PMID: 18700894, 32904964). This variant is present in population databases (rs200923373, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with congenital muscular dystrophy (PMID: 30055037). ClinVar contains an entry for this variant (Variation ID: 191214). For these reasons, this variant has been classified as Pathogenic.
Genomic Medicine Lab, University of California San Francisco	RCV001375997	SCV001573001	pathogenic	Muscular dystrophy, limb-girdle, autosomal recessive 23	2019-07-11	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000171401	SCV002016413	pathogenic	not provided	2019-06-13	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000665977	SCV004190420	pathogenic	Merosin deficient congenital muscular dystrophy	2024-03-27	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV000665977	SCV004805018	pathogenic	Merosin deficient congenital muscular dystrophy	2024-03-17	criteria provided, single submitter	research
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV000171401	SCV000221598	likely pathogenic	not provided		flagged submission	research