ClinVar Miner

Submissions for variant NM_002755.4(MAP2K1):c.175_177del (p.Lys59del)

dbSNP: rs869025339
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV000207500 SCV000263048 likely pathogenic not provided 2015-07-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002515536 SCV003442955 likely pathogenic RASopathy 2022-09-02 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant, c.175_177del, results in the deletion of 1 amino acid(s) of the MAP2K1 protein (p.Lys59del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with cardio-facio-cutaneous syndrome (PMID: 17551924). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 222074). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects MAP2K1 function (PMID: 29753091).
GeneDx RCV000207500 SCV005376565 likely pathogenic not provided 2024-04-11 criteria provided, single submitter clinical testing In-frame deletion of one amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29753091, 17551924)
OMIM RCV002277569 SCV001244680 pathogenic Cardiofaciocutaneous syndrome 3 2007-07-01 no assertion criteria provided literature only

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