Total submissions: 2
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. |