ClinVar Miner

Submissions for variant NM_000146.4(FTL):c.169G>A (p.Glu57Lys)

gnomAD frequency: 0.00003  dbSNP: rs201241191
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services,Illumina RCV000395171 SCV000414212 benign Hereditary hyperferritinemia with congenital cataracts 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services,Illumina RCV000311515 SCV000414213 benign Neuroferritinopathy 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000861621 SCV001001993 likely benign not provided 2017-08-14 criteria provided, single submitter clinical testing
GeneDx RCV000861621 SCV001819176 likely benign not provided 2019-04-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
TilsonLab,Columbia University RCV000144502 SCV000189821 likely pathogenic sporadic abdominal aortic aneurysm 2014-09-21 no assertion criteria provided research Observed frequency of 48965836(G>A) in 2/19 patients with abdominal aortic aneurysm versus heterozygosity described in "Variation Viewer" as 0.0002.

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