ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.956+2_956+19del

dbSNP: rs1555569342
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669806 SCV000794593 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2017-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000669806 SCV003337272 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-08-21 criteria provided, single submitter clinical testing This sequence change affects a splice site in intron 7 of the SGCA 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 SGCA are known to be pathogenic (PMID: 9192266). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SGCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 554218). 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.
Genome-Nilou Lab RCV000669806 SCV003931707 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-02-08 criteria provided, single submitter clinical testing

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