ClinVar Miner

Submissions for variant NM_145331.3(MAP3K7):c.721T>G (p.Trp241Gly) (rs886039237)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479656 SCV000572941 pathogenic not provided 2018-05-17 criteria provided, single submitter clinical testing The W241G variant in the MAP3K7 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. However, a variant at the same residue, W241R, has been reported in an individual with cardiospondylocarpofacial syndrome (Le Goff et al., 2016). The W241G variant is not observed in large population cohorts (Lek et al., 2016). The W241G variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret W241G as a pathogenic variant.
GenomeConnect, ClinGen RCV000479656 SCV000986807 not provided not provided no assertion provided phenotyping only Variant interpretted as pathogenic and reported on 07/05/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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