ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.1762del (p.Ala588fs)

dbSNP: rs786205654
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000171527 SCV000221726 likely pathogenic not provided criteria provided, single submitter research
GeneDx RCV000171527 SCV000748598 pathogenic not provided 2020-12-21 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 30055037, 27124789, 33101984, 31130284)
CeGaT Center for Human Genetics Tuebingen RCV000171527 SCV002545447 pathogenic not provided 2022-05-01 criteria provided, single submitter clinical testing LAMA2: PVS1, PM2
Revvity Omics, Revvity RCV000171527 SCV003829183 likely pathogenic not provided 2022-12-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV004567375 SCV005059875 pathogenic Merosin deficient congenital muscular dystrophy 2024-03-19 criteria provided, single submitter clinical testing

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