ClinVar Miner

Submissions for variant NM_004771.4(MMP20):c.954-2A>T (rs140213840)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000005761 SCV000915493 uncertain significance Amelogenesis imperfecta, hypomaturation type, IIA2 2018-10-24 criteria provided, single submitter clinical testing The MMP20 c.954-2A>T variant occurs in a splice site (acceptor) and is therefore predicted to disrupt or distort the normal gene product. The c.954-2A>T variant has been reported in at least one study, in which it is found in a homozygous state in two members of the same family who were clinically affected with amelogenesis imperfecta (Kim et al. 2005). Unaffected family members carried this variant in heterozygous state. The variant was absent in 200 controls but is reported at a frequency of 0.019231 in the Puerto Rican population of the 1000 Genomes Project. The high allele frequency could be explained with the mild phenotype associated with the disease. Based on the potential impact of splice acceptor variants and clinical evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for amelogenesis imperfecta. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
OMIM RCV000005761 SCV000025943 pathogenic Amelogenesis imperfecta, hypomaturation type, IIA2 2005-03-01 no assertion criteria provided literature only

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