ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1153G>C (p.Gly385Arg)

gnomAD frequency: 0.01088  dbSNP: rs11098943
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000675987 SCV000170275 benign not provided 2018-12-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27903347, 30382371)
Eurofins Ntd Llc (ga) RCV000117616 SCV000203019 benign not specified 2014-04-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000456677 SCV000447469 benign Neuronal ceroid lipofuscinosis 7 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000456677 SCV000559625 benign Neuronal ceroid lipofuscinosis 7 2025-02-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312185 SCV000846267 benign Inborn genetic diseases 2016-02-25 criteria provided, single submitter clinical testing This alteration is classified as 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.
Athena Diagnostics RCV000675987 SCV001144506 benign not provided 2018-12-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000117616 SCV002051033 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000675987 SCV005256183 likely benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000117616 SCV000151846 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Mayo Clinic Laboratories, Mayo Clinic RCV000675987 SCV000801719 benign not provided 2017-03-16 no assertion criteria provided clinical testing
Natera, Inc. RCV001276177 SCV001462031 benign Late-infantile neuronal ceroid lipofuscinosis 2020-09-16 no assertion criteria provided clinical testing

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