ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.7074C>A (p.Tyr2358Ter) (rs762806915)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000498487 SCV000613979 pathogenic not provided 2017-06-30 criteria provided, single submitter clinical testing
Counsyl RCV000665940 SCV000790152 likely pathogenic Merosin deficient congenital muscular dystrophy 2017-03-23 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763555 SCV000894372 pathogenic Merosin deficient congenital muscular dystrophy; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000498487 SCV000589573 pathogenic not provided 2017-06-02 criteria provided, single submitter clinical testing The Y2358X variant in the LAMA2 gene has been reported previously in one individual with congenital muscular dystrophy, who also harbored another LAMA2 frameshift variant presumed to be pathogenic (Pegoraro et al., 1998; Hayashi et al., 2001). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Y2358X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret Y2358X as a pathogenic variant.
Invitae RCV000815600 SCV000956061 pathogenic Laminin alpha 2-related dystrophy 2018-12-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr2358*) in the LAMA2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs762806915, ExAC 0.003%). This variant has been observed in an individual affected with congenital muscular dystrophy (PMID: 9674786). ClinVar contains an entry for this variant (Variation ID: 431964). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in LAMA2 are known to be pathogenic (PMID: 18700894). For these reasons, this variant has been classified as Pathogenic.

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