ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.129C>T (p.Gly43=) (rs146177035)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035302 SCV000058950 likely benign not specified 2016-12-12 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035302 SCV000334664 benign not specified 2015-08-28 criteria provided, single submitter clinical testing
Invitae RCV000470678 SCV000556166 benign Fabry disease 2017-12-29 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587008 SCV000695735 benign not provided 2016-12-15 criteria provided, single submitter clinical testing Variant summary: The GLA c.129C>T (p.Gly43Gly) variant involves the alteration of a conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant does not affect any ESE site. This variant was found in 30/87749 control chromosomes in ExAC database, including 7 hemizygotes (~1 in 4179 males, assuming male/female ratio is 1). Fabry disease affects an estimated 1 in 40,000 to 60,000 males (https://ghr.nlm.nih.gov/condition/fabry-disease#statistics), which is much lower than the hemizygote frequency of the variant of interest. Therefore, this variant is unlikely to associate with the disease. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign/benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Ambry Genetics RCV000620829 SCV000736432 likely benign Cardiovascular phenotype 2016-04-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000470678 SCV000904420 benign Fabry disease 2018-05-29 criteria provided, single submitter clinical testing

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