ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2069_2070del (p.His690fs)

dbSNP: rs1555423046
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667099 SCV000791496 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2017-10-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000667099 SCV002238889 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-07-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 551927). This premature translational stop signal has been observed in individual(s) with inherited muscular disorders, including autosomal recessive limb-girdle muscular dystrophy (PMID: 7720071, 21204801, 27363342). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.His690Argfs*9) in the CAPN3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CAPN3 are known to be pathogenic (PMID: 10330340, 15689361).
Baylor Genetics RCV003472084 SCV004211517 pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2023-12-29 criteria provided, single submitter clinical testing

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