ClinVar Miner

Submissions for variant NM_000426.3(LAMA2):c.498G>A (p.Trp166Ter) (rs553221833)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666062 SCV000790298 likely pathogenic Merosin deficient congenital muscular dystrophy 2017-03-09 criteria provided, single submitter clinical testing
GeneDx RCV000760397 SCV000890270 pathogenic not provided 2018-08-02 criteria provided, single submitter clinical testing The W166X nonsense variant in the LAMA2 gene has been reported previously in an individual with congenital muscular dystrophy who also had a frameshift variant identified in LAMA2 (Mendell et al., 1998). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W166X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret W166X as a pathogenic variant.

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