ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.2290A>G (p.Thr764Ala) (rs56302559)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554433 SCV000659635 likely benign NIK deficiency 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000421 SCV001157229 uncertain significance not specified 2019-06-27 criteria provided, single submitter clinical testing The MAP3K14 c.2290A>G; p.Thr764Ala variant (rs56302559), to our knowledge, is not reported in the medical literature but is reported as likely benign in ClinVar (Variation ID: 478059). This variant is found in the general population with an overall allele frequency of 0.19% (495/266794 alleles) in the Genome Aggregation Database. The threonine at codon 764 is highly conserved, but computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Thr764Ala variant is uncertain at this time.

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