ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.100del (p.Ala34fs)

dbSNP: rs2052593499
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001068127 SCV001233217 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-12-22 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: 861571). This premature translational stop signal has been observed in individual(s) with limb girdle muscular dystrophy (LGMD) type 2A (PMID: 15221789, 18854869). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala34Leufs*23) 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 RCV003462607 SCV004213806 pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2023-02-07 criteria provided, single submitter clinical testing

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