ClinVar Miner

Submissions for variant NM_030662.4(MAP2K2):c.528G>A (p.Ala176=)

gnomAD frequency: 0.00002  dbSNP: rs767939999
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001873729 SCV002204970 uncertain significance RASopathy 2022-07-23 criteria provided, single submitter clinical testing Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 1174505). This variant has not been reported in the literature in individuals affected with MAP2K2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change affects codon 176 of the MAP2K2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MAP2K2 protein. This variant also falls at the last nucleotide of exon 4, which is part of the consensus splice site for this exon. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV001528135 SCV002777434 uncertain significance Cardiofaciocutaneous syndrome 4 2021-12-30 criteria provided, single submitter clinical testing
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV001528135 SCV001739343 likely pathogenic Cardiofaciocutaneous syndrome 4 2021-05-05 no assertion criteria provided clinical testing

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