ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.1711G>A (p.Gly571Ser)

gnomAD frequency: 0.00007  dbSNP: rs797044752
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178834 SCV000230997 uncertain significance not provided 2018-05-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317051 SCV000851688 uncertain significance Inborn genetic diseases 2017-05-22 criteria provided, single submitter clinical testing The p.G571S variant (also known as c.1711G>A), located in coding exon 5 of the IQSEC2 gene, results from a G to A substitution at nucleotide position 1711. The glycine at codon 571 is replaced by serine, an amino acid with similar properties. This amino acid position is not well 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.
Invitae RCV001222587 SCV001394692 likely benign Intellectual disability, X-linked 1 2023-12-14 criteria provided, single submitter clinical testing
GeneDx RCV000178834 SCV001767334 likely benign not provided 2020-06-22 criteria provided, single submitter clinical testing

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