ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.7377dup (p.Leu2460fs)

gnomAD frequency: 0.00002  dbSNP: rs749566145
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001232711 SCV001405279 pathogenic LAMA2-related muscular dystrophy 2024-03-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu2460Serfs*2) 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). This variant is present in population databases (rs749566145, gnomAD 0.06%). This premature translational stop signal has been observed in individual(s) with congenital muscular dystrophy (PMID: 11938437, 21520333). This variant is also known as 7426insT. ClinVar contains an entry for this variant (Variation ID: 959370). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002497794 SCV002808046 likely pathogenic Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 2022-01-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV003469420 SCV004190419 likely pathogenic Merosin deficient congenital muscular dystrophy 2024-03-14 criteria provided, single submitter clinical testing

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