ClinVar Miner

Submissions for variant NM_001174089.2(SLC4A11):c.433A>C (p.Arg145=)

gnomAD frequency: 0.49054  dbSNP: rs3827075
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245921 SCV000314833 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000384700 SCV000433573 benign Corneal dystrophy 2018-03-06 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001516715 SCV001725041 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543281 SCV001761820 benign Corneal dystrophy-perceptive deafness syndrome 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543282 SCV001761821 benign Congenital hereditary endothelial dystrophy of cornea 2021-07-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000245921 SCV002050734 benign not specified 2021-12-03 criteria provided, single submitter clinical testing
Molecular Genetics, Royal Melbourne Hospital RCV001543281 SCV002503693 benign Corneal dystrophy-perceptive deafness syndrome 2021-10-04 criteria provided, single submitter clinical testing Population allele frequency is 44% (rs3827075, 122,773/276,940 alleles in gnomAD v2.0.2). Based on the classification scheme RMH ACMG Guidelines v1.1.1, this variant is classified as Benign. Following criteria met: BA1
Prof. Brien Holden Eye Research Center, Hyderabad Eye Research Foundation, L V Prasad Eye Institute RCV001543282 SCV002586372 uncertain significance Congenital hereditary endothelial dystrophy of cornea 2022-08-07 criteria provided, single submitter case-control Opaque cornea with reduced visual acuity. This change was observed with the other variant (NM_032034.4:c.[2413_2414insT]).
Breakthrough Genomics, Breakthrough Genomics RCV001516715 SCV005309382 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001543281 SCV002090960 benign Corneal dystrophy-perceptive deafness syndrome 2019-11-19 no assertion criteria provided clinical testing

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