ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.844T>C (p.Ser282Pro)

dbSNP: rs1375874603
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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 RCV001066495 SCV001231506 uncertain significance NIK deficiency 2023-02-14 criteria provided, single submitter clinical testing 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. This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 282 of the MAP3K14 protein (p.Ser282Pro). This variant is not present in population databases (gnomAD no frequency). 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: 860224). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.

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