ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.307G>A (p.Ala103Thr)

gnomAD frequency: 0.00006  dbSNP: rs369004173
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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 RCV000819324 SCV000959978 uncertain significance NIK deficiency 2024-02-05 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 103 of the MAP3K14 protein (p.Ala103Thr). This variant is present in population databases (rs369004173, gnomAD 0.007%). 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: 661822). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Ambry Genetics RCV004029004 SCV003526662 uncertain significance not specified 2022-09-28 criteria provided, single submitter clinical testing The c.307G>A (p.A103T) alteration is located in exon 3 (coding exon 2) of the MAP3K14 gene. This alteration results from a G to A substitution at nucleotide position 307, causing the alanine (A) at amino acid position 103 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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