ClinVar Miner

Submissions for variant NM_145331.3(MAP3K7):c.145GTT[1] (p.Val50del)

dbSNP: rs886039236
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001387545 SCV001588209 pathogenic not provided 2020-01-21 criteria provided, single submitter clinical testing This variant has been reported to affect MAP3K7 protein function (PMID: 27426734). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with cardiospondylocarpofacial syndrome (PMID: 27426734). It has also been observed to segregate with disease in related individuals. In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 264704). This variant is not present in population databases (ExAC no frequency). This variant, c.148_150del, results in the deletion of 1 amino acid(s) of the MAP3K7 protein (p.Val50del), but otherwise preserves the integrity of the reading frame.
Mendelics RCV000254567 SCV002517591 pathogenic Cardiospondylocarpofacial syndrome 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV000254567 SCV000320737 pathogenic Cardiospondylocarpofacial syndrome 2022-02-04 no assertion criteria provided literature only

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