ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.622-7T>G

gnomAD frequency: 0.00001  dbSNP: rs745333182
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000278616 SCV000331191 uncertain significance not provided 2016-09-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855078 SCV002172676 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2E 2021-10-14 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the SGCB gene. It does not directly change the encoded amino acid sequence of the SGCB protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with SGCB-related conditions. ClinVar contains an entry for this variant (Variation ID: 281064). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.

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