ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.1119G>C (p.Trp373Cys)

gnomAD frequency: 0.00003  dbSNP: rs780581302
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001070047 SCV001235255 benign not provided 2023-10-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004030738 SCV002754756 uncertain significance not specified 2018-10-23 criteria provided, single submitter clinical testing The p.W373C variant (also known as c.1119G>C), located in coding exon 2 of the KIAA2022 gene, results from a G to C substitution at nucleotide position 1119. The tryptophan at codon 373 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV001070047 SCV004036621 uncertain significance not provided 2023-03-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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