ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.1295C>T (p.Ala432Val)

gnomAD frequency: 0.00009  dbSNP: rs370414354
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000236000 SCV003813289 uncertain significance not provided 2019-07-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379045 SCV002695493 uncertain significance Inborn genetic diseases 2020-11-12 criteria provided, single submitter clinical testing The p.A432V variant (also known as c.1295C>T), located in coding exon 9 of the IGHMBP2 gene, results from a C to T substitution at nucleotide position 1295. The alanine at codon 432 is replaced by valine, an amino acid with similar properties. This amino acid position is poorly 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000763763 SCV000956167 likely benign Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 2024-10-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763763 SCV000894658 uncertain significance Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000236000 SCV000292996 uncertain significance not provided 2015-08-05 criteria provided, single submitter clinical testing The A432V variant in the IGHMBP2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A432V variant was not observed at any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common variant in these populations. The A432V variant is a conservative amino acid substitution, which occurs at a position that is not conserved across species. In silico analysis predicts this variant likely does not alter the protein structure/function. We interpret A432V as a variant of unknown significance.

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