ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.578+1G>C

dbSNP: rs1555245353
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669411 SCV000794160 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2017-09-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000669411 SCV002115235 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2022-09-27 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: 553878). This variant has not been reported in the literature in individuals affected with SGCG-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 6 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).
Baylor Genetics RCV000669411 SCV004201063 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2024-01-24 criteria provided, single submitter clinical testing

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