ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.760A>T (p.Lys254Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002307064 SCV002604530 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-12-08 criteria provided, single submitter clinical testing NM_000070.2(CAPN3):c.760A>T(K254*) is expected to be pathogenic in the context of calpainopathy. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in CAPN3, 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.

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