ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.1306C>T (p.Arg436Trp)

gnomAD frequency: 0.00025  dbSNP: rs138327042
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001062368 SCV001227163 likely benign Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001760027 SCV001999853 uncertain significance not provided 2019-12-13 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002379584 SCV002693759 uncertain significance Inborn genetic diseases 2020-10-08 criteria provided, single submitter clinical testing The p.R436W variant (also known as c.1306C>T), located in coding exon 9 of the IGHMBP2 gene, results from a C to T substitution at nucleotide position 1306. The arginine at codon 436 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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