ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.674G>A (p.Arg225His) (rs34295241)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001002470 SCV000290950 likely benign Arterial tortuosity syndrome 2020-11-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000246524 SCV000317888 benign Cardiovascular phenotype 2015-04-20 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000338554 SCV000333791 benign not specified 2015-08-28 criteria provided, single submitter clinical testing
GeneDx RCV000338554 SCV000514668 benign not specified 2015-07-29 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585432 SCV000693059 uncertain significance not provided 2017-07-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002470 SCV001160418 likely benign Arterial tortuosity syndrome 2019-04-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000338554 SCV001339252 likely benign not specified 2020-03-16 criteria provided, single submitter clinical testing Variant summary: SLC2A10 c.674G>A (p.Arg225His) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.0015 in 250864 control chromosomes, predominantly at a frequency of 0.0089 within the African or African-American subpopulation in the gnomAD database. The observed variant frequency within African or African-American control individuals in the gnomAD database is approximately 5.63 fold of the estimated maximal expected allele frequency for a pathogenic variant in SLC2A10 causing Aortopathy phenotype (0.0016), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. To our knowledge, no occurrence of c.674G>A in individuals affected with Aortopathy and no experimental evidence demonstrating its impact on protein function have been reported. Six clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, five classified as likely benign/benign while one classified as VUS. Based on the evidence outlined above, the variant was classified as likely benign.
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000338554 SCV001807502 benign not specified no assertion criteria provided clinical testing

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