ClinVar Miner

Submissions for variant NM_004771.4(MMP20):c.289A>T (p.Lys97Ter) (rs367552668)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000383793 SCV000366502 uncertain significance Amelogenesis imperfecta, hypomaturation type, IIA2 2017-04-27 criteria provided, single submitter clinical testing The MMP20 c.289A>T (p.Lys97Ter) variant is a stop-gained variant predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search.The variant is reported at a frequency of 0.000054 in the East Asian population of the Genome Aggregation Database in a region of good sequence coverage and is therefore considered to be rare. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Based on the potential impact of stop-gained variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for recessive amelogenesis imperfecta. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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