ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.794C>T (p.Thr265Ile)

gnomAD frequency: 0.00025  dbSNP: rs116214830
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725027 SCV000333344 uncertain significance not provided 2015-07-23 criteria provided, single submitter clinical testing
GeneDx RCV000725027 SCV000618190 likely benign not provided 2019-04-05 criteria provided, single submitter clinical testing
Invitae RCV000558599 SCV000642385 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2E 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 265 of the SGCB protein (p.Thr265Ile). This variant is present in population databases (rs116214830, gnomAD 0.1%). 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: 282121). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SGCB protein function. 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.
Genetics and Genomics Program, Sidra Medicine RCV001293172 SCV001434169 likely benign Primary dilated cardiomyopathy criteria provided, single submitter research
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000558599 SCV002049771 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2E 2021-02-04 criteria provided, single submitter clinical testing The SGCB c.794C>T, p.Thr265Ile variant (rs116214830), to our knowledge, is not reported in the medical literature but is reported as uncertain in ClinVar (Variation ID: 282121). This variant is found in the African population with an allele frequency of 0.1% (28/24,964 alleles) in the Genome Aggregation Database. The threonine at codon 265 is weakly conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.31). Due to limited information, the clinical significance of the p.Thr265Ile variant is uncertain at this time.
Revvity Omics, Revvity RCV000558599 SCV003827611 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2E 2023-10-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV000558599 SCV001460959 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2E 2020-09-16 no assertion criteria provided clinical testing

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