ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.590G>A (p.Gly197Asp)

gnomAD frequency: 0.00184  dbSNP: rs28544073
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180004 SCV000232337 likely benign not specified 2014-11-13 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000461551 SCV000447473 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV001721127 SCV000513609 likely benign not provided 2020-07-28 criteria provided, single submitter clinical testing
Invitae RCV000461551 SCV000559623 likely benign Neuronal ceroid lipofuscinosis 7 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314668 SCV000847386 benign Inborn genetic diseases 2016-07-28 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001721127 SCV004227026 uncertain significance not provided 2023-05-04 criteria provided, single submitter clinical testing BS1, PP3
PreventionGenetics, part of Exact Sciences RCV003947538 SCV004759205 likely benign MFSD8-related disorder 2019-03-22 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001273684 SCV001457014 uncertain significance Late-infantile neuronal ceroid lipofuscinosis 2020-01-24 no assertion criteria provided clinical testing

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