ClinVar Miner

Submissions for variant NM_199054.3(MKNK2):c.133C>T (p.Arg45Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004825324 SCV005445174 uncertain significance not specified 2024-10-29 criteria provided, single submitter clinical testing The c.133C>T (p.R45C) alteration is located in exon 3 (coding exon 2) of the MKNK2 gene. This alteration results from a C to T substitution at nucleotide position 133, causing the arginine (R) at amino acid position 45 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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