ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.313_319del (p.Val105Profs)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666187 SCV000790437 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2017-03-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000666187 SCV002181895 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2021-10-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as 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: 551197). This variant has not been reported in the literature in individuals affected with SGCA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val105Profs*104) in the SGCA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SGCA are known to be pathogenic (PMID: 9192266).
Genome-Nilou Lab RCV000666187 SCV003931656 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-02-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV000666187 SCV005056688 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2024-03-12 criteria provided, single submitter clinical testing

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