ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.3290C>A (p.Thr1097Asn) (rs141894081)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000416078 SCV000293367 likely benign not provided 2020-10-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32376792)
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416078 SCV000493523 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing
Invitae RCV001085919 SCV000657953 likely benign Charcot-Marie-Tooth disease type 4 2020-11-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001114470 SCV001272357 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172800 SCV001335869 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001114470 SCV001440509 uncertain significance Charcot-Marie-Tooth disease, type 4B2 2019-01-01 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous.
Athena Diagnostics Inc RCV000416078 SCV001475456 uncertain significance not provided 2020-01-31 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000416078 SCV001716092 uncertain significance not provided 2019-06-09 criteria provided, single submitter clinical testing
Practice for Gait Abnormalities, David Pomarino,Competency Network Toe Walking c/o Practice Pomarino RCV001564019 SCV001786704 likely pathogenic Toe walking 2021-05-31 criteria provided, single submitter clinical testing We examined a family. The child and the mother both are toe-walkers and both have gene variant SBF2 c.3290C>A. Father is not toe-walker and he doesn't have this variant.

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