ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.5195dup (p.Asn1732fs)

dbSNP: rs747567057
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000998684 SCV001154876 likely pathogenic not provided 2018-01-01 criteria provided, single submitter clinical testing
Invitae RCV001869408 SCV002199385 pathogenic LAMA2-related muscular dystrophy 2022-02-08 criteria provided, single submitter clinical testing This variant is present in population databases (rs747567057, gnomAD 0.002%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 809994). This variant has not been reported in the literature in individuals affected with LAMA2-related conditions. This sequence change creates a premature translational stop signal (p.Asn1732Lysfs*10) 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).

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