ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.2557G>A (p.Asp853Asn)

gnomAD frequency: 0.00002  dbSNP: rs766785713
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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 RCV001931114 SCV002190702 uncertain significance NIK deficiency 2021-03-19 criteria provided, single submitter clinical testing This variant is present in population databases (rs766785713, ExAC 0.01%). This sequence change replaces aspartic acid with asparagine at codon 853 of the MAP3K14 protein (p.Asp853Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant has not been reported in the literature in individuals with MAP3K14-related conditions. 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. 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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