ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.298-2A>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003472705 SCV004201066 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2022-01-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003472705 SCV004399978 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2024-01-03 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 3 of the SGCG 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 SGCG are known to be pathogenic (PMID: 18285821). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with SGCG-related disease (PMID: 23929688). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. 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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