ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.1193C>T (p.Ala398Val) (rs35193202)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000726894 SCV000278982 likely benign not provided 2021-09-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26467025, 26392352)
Illumina Clinical Services Laboratory,Illumina RCV000407593 SCV000373776 likely benign Spinal muscular atrophy, distal, autosomal recessive, 1 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.
Invitae RCV001079219 SCV000642299 benign Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2020-12-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726894 SCV000703937 uncertain significance not provided 2017-09-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000726894 SCV000885603 likely benign not provided 2018-05-02 criteria provided, single submitter clinical testing The p.Ala398Val variant (rs35193202) was reported in one patient from a cohort selected for inherited peripheral neuropathy (Antoniadi 2015). This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.4 percent in the European Finnish population (identified on 93 out of 25,414 chromosomes, including 1 homozygote) and has been reported to the ClinVar database (Variation ID: 234315). Given the abundance in the general population, the p.Ala398Val variant is considered to be likely benign.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000726894 SCV001148362 likely benign not provided 2020-12-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173579 SCV001336678 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000726894 SCV001925652 uncertain significance not provided no assertion criteria provided clinical testing

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