ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.2849A>G (p.Tyr950Cys)

dbSNP: rs373566578
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002183151 SCV002429112 benign not provided 2022-04-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004046407 SCV002754843 uncertain significance not specified 2018-05-14 criteria provided, single submitter clinical testing The p.Y950C variant (also known as c.2849A>G), located in coding exon 2 of the KIAA2022 gene, results from an A to G substitution at nucleotide position 2849. The tyrosine at codon 950 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species, and cysteine is the reference amino acid in other vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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