ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.1451G>A (p.Cys484Tyr)

gnomAD frequency: 0.00470  dbSNP: rs201323100
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000267568 SCV000385269 benign Focal segmental glomerulosclerosis 5 2018-01-12 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.
GeneDx RCV000419174 SCV000513286 benign not specified 2017-12-13 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000860568 SCV001000659 benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2024-02-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001727680 SCV001470853 benign not provided 2023-08-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002392855 SCV002696664 likely benign Inborn genetic diseases 2019-09-12 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.
Fulgent Genetics, Fulgent Genetics RCV000860568 SCV002804207 likely benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2022-05-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001727680 SCV003917351 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing INF2: BS2
Breakthrough Genomics, Breakthrough Genomics RCV001727680 SCV005294718 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000419174 SCV001923780 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727680 SCV001970198 likely benign not provided no assertion criteria provided clinical testing

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