ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.4217C>A (p.Pro1406His)

dbSNP: rs1569291207
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697904 SCV000826538 uncertain significance Intellectual disability, X-linked 1 2021-08-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002332469 SCV002627416 uncertain significance Inborn genetic diseases 2019-10-28 criteria provided, single submitter clinical testing The p.P1406H variant (also known as c.4217C>A), located in coding exon 15 of the IQSEC2 gene, results from a C to A substitution at nucleotide position 4217. The proline at codon 1406 is replaced by histidine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, histidine is the reference amino acid in other 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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