ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.727C>T (p.Pro243Ser)

gnomAD frequency: 0.00001  dbSNP: rs746910953
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336446 SCV001529831 uncertain significance Charcot-Marie-Tooth disease axonal type 2S 2018-07-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002384446 SCV002672537 uncertain significance Inborn genetic diseases 2020-02-25 criteria provided, single submitter clinical testing The p.P243S variant (also known as c.727C>T), located in coding exon 6 of the IGHMBP2 gene, results from a C to T substitution at nucleotide position 727. The proline at codon 243 is replaced by serine, 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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