ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.196-3C>T

gnomAD frequency: 0.00016  dbSNP: rs765273430
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591281 SCV000707619 uncertain significance not provided 2017-04-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000636847 SCV000758288 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2C 2022-11-01 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the SGCG gene. It does not directly change the encoded amino acid sequence of the SGCG protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs765273430, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with SGCG-related conditions. ClinVar contains an entry for this variant (Variation ID: 501306). 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 is not likely to affect RNA splicing. 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.
Revvity Omics, Revvity RCV000636847 SCV004237247 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2C 2023-04-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV000636847 SCV002086088 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2C 2020-02-26 no assertion criteria provided clinical testing

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