ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.715G>A (p.Val239Met)

gnomAD frequency: 0.00006  dbSNP: rs372261116
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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 RCV001036220 SCV001199571 uncertain significance NIK deficiency 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 239 of the MAP3K14 protein (p.Val239Met). This variant is present in population databases (rs372261116, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with MAP3K14-related conditions. ClinVar contains an entry for this variant (Variation ID: 835357). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Breakthrough Genomics, Breakthrough Genomics RCV004693452 SCV005192922 uncertain significance not provided criteria provided, single submitter not provided

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