ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1083+2T>A (rs746085723)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000586630 SCV000696296 pathogenic Methylmalonic acidemia 2016-10-24 criteria provided, single submitter clinical testing Variant summary: The MUT c.1083+2T>A variant involves the alteration of the GT donor splice site of intron 5, which 5/5 splice prediction tools predict abrogation of the donor site. This variant was found in 1/119390 control chromosomes at a frequency of 0.0000084, which does not exceed the estimated maximal expected allele frequency of a pathogenic MUT variant (0.0024152). This variant has been reported in one patient with Methylmalonic Acidemia who was compound heterozygous with another variant c.1328dupT. Taken together, this variant is classified as Pathogenic.

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