ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.622-2A>G

gnomAD frequency: 0.00001  dbSNP: rs780596734
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411845 SCV000485347 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2015-11-24 criteria provided, single submitter clinical testing
Invitae RCV000411845 SCV001382785 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2024-01-22 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 4 of the SGCB gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SGCB are known to be pathogenic (PMID: 15938573, 18285821). This variant is present in population databases (rs780596734, gnomAD 0.003%). Disruption of this splice site has been observed in individuals with limb-girdle muscular dystrophy (PMID: 12566530). ClinVar contains an entry for this variant (Variation ID: 370115). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000411845 SCV004208741 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-09-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV000411845 SCV002082978 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2021-10-05 no assertion criteria provided clinical testing

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