ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.753+5G>A

dbSNP: rs936193061
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987446 SCV001136736 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000987446 SCV003458946 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-08-04 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with clinical features of limb-girdle muscular dystrophy (PMID: 31268554; Invitae). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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: 802072). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 5 of the SGCB gene. It does not directly change the encoded amino acid sequence of the SGCB protein. It affects a nucleotide within the consensus splice site.

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