ClinVar Miner

Submissions for variant NM_022436.3(ABCG5):c.1806C>T (p.Phe602=)

gnomAD frequency: 0.00052  dbSNP: rs150716811
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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) RCV000728857 SCV000856475 benign not specified 2017-08-22 criteria provided, single submitter clinical testing
Invitae RCV000958290 SCV001105123 benign Sitosterolemia 2024-01-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001141537 SCV001301890 uncertain significance Sitosterolemia 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV001709687 SCV001937477 benign not provided 2021-06-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000728857 SCV002070900 benign not specified 2019-03-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002406661 SCV002713195 likely benign Cardiovascular phenotype 2019-09-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000728857 SCV004813235 likely benign not specified 2024-02-19 criteria provided, single submitter clinical testing

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