ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.7666del (p.Thr2556fs)

dbSNP: rs2114839550
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001782363 SCV002022624 likely pathogenic not provided 2021-09-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002034599 SCV002240277 pathogenic LAMA2-related muscular dystrophy 2021-09-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr2556Profs*32) 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 not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with LAMA2-related conditions. For these reasons, this variant has been classified as Pathogenic.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002034599 SCV003922659 likely pathogenic LAMA2-related muscular dystrophy 2023-03-30 criteria provided, single submitter clinical testing Variant summary: LAMA2 c.7666delA (p.Thr2556ProfsX51) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic within ClinVar (e.g. c.7991del [p.Gly2664fs], c.8188C>T [p.Gln2730Ter]). The variant was absent in 251250 control chromosomes (gnomAD). To our knowledge, no occurrence of c.7666delA in individuals affected with Laminin Alpha 2-Related Dystrophy and no experimental evidence demonstrating its impact on protein function have been reported. Two ClinVar submitters have assessed the variant since 2014: one classified the variant as likely pathogenic, and one as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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