ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.621+1G>A

dbSNP: rs1264362642
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000824267 SCV000965160 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2024-03-09 criteria provided, single submitter clinical testing This sequence change affects a donor 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 not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with clinical features of limb-girdle muscular dystrophy (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 665890). 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.

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