ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.4533del (p.Gly1512fs)

dbSNP: rs1776950897
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001044223 SCV001208009 pathogenic LAMA2-related muscular dystrophy 2023-09-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 841906). This premature translational stop signal has been observed in individual(s) with limb girdle muscular dystrophy (PMID: 27932089). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly1512Alafs*83) 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).
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV002468617 SCV002764769 pathogenic Muscular dystrophy, limb-girdle, autosomal recessive 23 2021-07-30 criteria provided, single submitter clinical testing

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