ClinVar Miner

Submissions for variant NM_145331.3(MAP3K7):c.632A>G (p.Asp211Gly) (rs1776245887)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001281689 SCV001469051 uncertain significance Cardiospondylocarpofacial syndrome 2020-12-02 criteria provided, single submitter clinical testing This MAP3K7 variant is absent from a large population database and has not been reported in the literature to our knowledge. This variant was detected in the maternal sample used for analysis. The reduced alternate allele fraction and possibility of mild MAP3K7?associated phenotypes suggest that c.632A>G is mosaic in the patient’s mother (see Notes for more information). Three bioinformatics tools predict this variant would be damaging. The aspartate residue at this position is strongly conserved across the species assessed and is located in the TAK1 kinase domain. This variant is not predicted to affect normal exon 7 splicing, although this has not been confirmed experimentally to our knowledge. Due to insufficient evidence, we consider the clinical significance of c.632A>G to be uncertain at this time.

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