ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.6687G>A (p.Trp2229Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002306688 SCV002602717 likely pathogenic Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 2022-01-27 criteria provided, single submitter clinical testing NM_000426.3(LAMA2):c.6687G>A(W2229*) is expected to be pathogenic in the context of muscular dystrophy, LAMA2-related. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in LAMA2, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.
Fulgent Genetics, Fulgent Genetics RCV002306688 SCV005667119 likely pathogenic Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 2024-05-16 criteria provided, single submitter clinical testing

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