ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1041A>G (p.Val347=)

gnomAD frequency: 0.00302  dbSNP: rs148291156
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000174178 SCV000170274 benign not specified 2013-02-19 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.
Eurofins Ntd Llc (ga) RCV000174178 SCV000225436 benign not specified 2014-11-13 criteria provided, single submitter clinical testing
Invitae RCV000471037 SCV000559624 benign Neuronal ceroid lipofuscinosis 7 2024-01-30 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000174178 SCV000614096 benign not specified 2016-09-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312906 SCV000849085 likely benign Inborn genetic diseases 2017-02-21 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.
Illumina Laboratory Services, Illumina RCV000471037 SCV001307855 likely benign Neuronal ceroid lipofuscinosis 7 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
CeGaT Center for Human Genetics Tuebingen RCV003457643 SCV004185240 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing MFSD8: BP4, BP7, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000174178 SCV001931407 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000174178 SCV001970852 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV001826792 SCV002084768 benign Late-infantile neuronal ceroid lipofuscinosis 2019-12-18 no assertion criteria provided clinical testing

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