ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.734C>G (p.Pro245Arg)

gnomAD frequency: 0.00001  dbSNP: rs778754357
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001226163 SCV001398464 uncertain significance NIK deficiency 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 245 of the MAP3K14 protein (p.Pro245Arg). This variant is present in population databases (rs778754357, gnomAD 0.009%). 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: 953815). 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.

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