ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.1015C>T (p.Leu339Phe)

gnomAD frequency: 0.00016  dbSNP: rs149045005
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000338066 SCV000373772 uncertain significance Autosomal recessive distal spinal muscular atrophy 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, 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.
Invitae RCV000531307 SCV000642291 likely benign Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 2024-01-29 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173563 SCV001336660 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001509408 SCV001716102 uncertain significance not provided 2019-09-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002338881 SCV002639004 uncertain significance Inborn genetic diseases 2020-10-08 criteria provided, single submitter clinical testing The p.L339F variant (also known as c.1015C>T), located in coding exon 7 of the IGHMBP2 gene, results from a C to T substitution at nucleotide position 1015. The leucine at codon 339 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001509408 SCV003813302 uncertain significance not provided 2022-07-05 criteria provided, single submitter clinical testing

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