ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.770G>A (p.Ser257Asn)

gnomAD frequency: 0.00003  dbSNP: rs1470379713
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658331 SCV000780103 likely benign not provided 2022-07-21 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV002397338 SCV002674445 uncertain significance Inborn genetic diseases 2017-07-27 criteria provided, single submitter clinical testing The p.S257N variant (also known as c.770G>A), located in coding exon 3 of the IQSEC2 gene, results from a G to A substitution at nucleotide position 770. The serine at codon 257 is replaced by asparagine, an amino acid with highly 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003767895 SCV004679439 likely benign Intellectual disability, X-linked 1 2024-10-24 criteria provided, single submitter clinical testing

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