ClinVar Miner

Submissions for variant NM_000231.2(SGCG):c.347G>A (p.Arg116His) (rs17314986)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000270116 SCV000677486 benign Severe autosomal recessive muscular dystrophy of childhood - North African type 2017-04-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078405 SCV000110251 benign not specified 2015-10-26 criteria provided, single submitter clinical testing
GeneDx RCV000078405 SCV000519755 benign not specified 2016-01-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000078405 SCV000152726 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000270116 SCV000383248 likely benign Severe autosomal recessive muscular dystrophy of childhood - North African type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325049 SCV000383249 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000078405 SCV000269824 benign not specified 2014-11-26 criteria provided, single submitter clinical testing p.Arg116His in exon 4 of SGCG: This variant is not expected to have clinical sig nificance because it has been identified in 14% (1198/8600) of European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu /EVS/; dbSNP rs17314986).
PreventionGenetics RCV000078405 SCV000303091 benign not specified criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000270116 SCV000803541 benign Severe autosomal recessive muscular dystrophy of childhood - North African type 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign - Stand Alone, for Muscular dystrophy, limb-girdle, type 2C, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BA1 => Allele frequency is >5% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium.

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