ClinVar Miner

Submissions for variant NM_145331.3(MAP3K7):c.1351G>A (p.Gly451Ser)

dbSNP: rs1775677189
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001270770 SCV001451522 uncertain significance Frontometaphyseal dysplasia 2 2019-01-28 criteria provided, single submitter clinical testing The MAP3K7 c.1351G>A (p.Gly451Ser) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequence coverage so the variant is presumed to be rare. Based on the limited evidence, the p.Gly451Ser variant is classified as a variant of uncertain significance for frontometaphyseal dysplasia.

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