ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.4G>A (p.Ala2Thr)

dbSNP: rs778232785
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173577 SCV001336675 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Ambry Genetics RCV002339426 SCV002644508 uncertain significance Inborn genetic diseases 2021-03-11 criteria provided, single submitter clinical testing The p.A2T variant (also known as c.4G>A), located in coding exon 1 of the IGHMBP2 gene, results from a G to A substitution at nucleotide position 4. The alanine at codon 2 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly 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.

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