ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.3556-13T>A

gnomAD frequency: 0.00001  dbSNP: rs775278003
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671390 SCV000796362 uncertain significance Merosin deficient congenital muscular dystrophy 2017-12-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV000671390 SCV001526009 likely pathogenic Merosin deficient congenital muscular dystrophy 2018-06-27 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported to affect splicing of LAMA2 [PMID 24611677]
Labcorp Genetics (formerly Invitae), Labcorp RCV001378737 SCV001576376 pathogenic LAMA2-related muscular dystrophy 2024-01-11 criteria provided, single submitter clinical testing This sequence change falls in intron 24 of the LAMA2 gene. It does not directly change the encoded amino acid sequence of the LAMA2 protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. This variant is present in population databases (rs775278003, gnomAD 0.03%). This variant has been observed in individual(s) with congenital muscular dystrophy (PMID: 24611677). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 555549). Studies have shown that this variant results in activation of a cryptic splice site and introduces a premature termination codon (PMID: 24611677). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005034262 SCV005667073 likely pathogenic Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 2024-06-04 criteria provided, single submitter clinical testing
GeneDx RCV005054240 SCV005687860 pathogenic not provided 2024-07-25 criteria provided, single submitter clinical testing Reported in the homozygous and compound heterozygous state in patients with LAMA2-related disorders in the published literature (PMID: 24611677, 31929873, 37388928); Non-canonical splice site variant demonstrated to result in loss of function (PMID: 24611677); This variant is associated with the following publications: (PMID: 38962616, 34281576, 32987775, 24611677, 31066047, 30055037, 37388928, 31929873)

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