ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.243+2T>G

dbSNP: rs1553940661
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669992 SCV000794800 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2017-10-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000669992 SCV004376562 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-05-05 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 554369). Disruption of this splice site has been observed in individual(s) with SGCB-related conditions (PMID: 32875335). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 2 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).

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