ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.7147C>T (p.Arg2383Ter) (rs121913576)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000179066 SCV000791863 pathogenic Merosin deficient congenital muscular dystrophy 2017-05-25 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000790693 SCV000231258 pathogenic not provided 2013-02-27 criteria provided, single submitter clinical testing
Invitae RCV000654712 SCV000776611 pathogenic Laminin alpha 2-related dystrophy 2018-11-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2383*) in the LAMA2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs121913576, ExAC 0.01%). This variant has been observed as homozygous or in combination with another LAMA2 variant in individuals affected with congenital muscular dystrophy (PMID: 11071490, 30055037, 24611677, 24223650). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 14300). Loss-of-function variants in LAMA2 are known to be pathogenic (PMID: 18700894). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000015370 SCV000035631 pathogenic Congenital muscular dystrophy due to partial LAMA2 deficiency 2000-10-24 no assertion criteria provided literature only

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