ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.7040G>T (p.Gly2347Val)

dbSNP: rs529981007
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001042574 SCV001206262 likely benign LAMA2-related muscular dystrophy 2024-01-25 criteria provided, single submitter clinical testing
Genetics and Genomics Program, Sidra Medicine RCV001293066 SCV001434048 uncertain significance Primary dilated cardiomyopathy criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV001726422 SCV001962002 uncertain significance not provided 2021-07-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001726422 SCV003808175 uncertain significance not provided 2023-04-03 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV004720290 SCV005329337 uncertain significance Merosin deficient congenital muscular dystrophy 2023-05-20 criteria provided, single submitter clinical testing The observed missense c.7040G>T(p.Gly2347Val) variant in LAMA2 gene has been reported previously in homozygous or compound heterozygous state in individual(s) affected with limb girdle muscular dystrophy (Wang et al., 2022). This variant is reported with the allele frequency of 0.01% in the gnomAD Exomes. This variant has been reported to the ClinVar database with varying interpretation: Uncertain Significance / Likely Benign. However, no details are available for independent assessment. The amino acid Gly at position 2347 is changed to a Val changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Gly2347Val in LAMA2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. Multiple lines of computational evidence (Polyphen - Damaging, SIFT - Damaging and MutationTaster - Disease causing) predict a damaging effect on protein structure and function for this variant. For these reasons, this variant has been classified as Uncertain Significance. The same variant in LAMA2 [c.7040G>T(p.Gly2347Val)] gene has been detected in heterozygous state in father and another variant in LAMA2 [c.1199C>G(p.Pro400Arg)] gene has been detected in heterozygous state in mother.

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