ClinVar Miner

Submissions for variant NM_030962.4(SBF2):c.1173A>G (p.Ala391=)

gnomAD frequency: 0.00687  dbSNP: rs79470805
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000206708 SCV000261224 benign Charcot-Marie-Tooth disease type 4 2025-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001000362 SCV000366402 benign Charcot-Marie-Tooth disease type 4B2 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.
Athena Diagnostics RCV000712998 SCV000843560 benign not provided 2017-11-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000362 SCV001157107 benign Charcot-Marie-Tooth disease type 4B2 2023-10-26 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001172815 SCV001335884 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV000712998 SCV001914637 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000712998 SCV002544541 benign not provided 2024-11-01 criteria provided, single submitter clinical testing ENSG00000286561: BS1, BS2; SBF2: BP4, BP7, BS1, BS2
Ambry Genetics RCV002327065 SCV002627977 likely benign Inborn genetic diseases 2019-07-11 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.
Breakthrough Genomics, Breakthrough Genomics RCV000712998 SCV005324230 benign not provided criteria provided, single submitter not provided

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