ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.348-58_348-56dup (rs1799772)

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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 RCV000587696 SCV000696494 benign not provided 2017-08-08 criteria provided, single submitter clinical testing Variant summary: The PMM2 c.348-58_348-56dupATG variant involves the duplication of three intronic nucleotides. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 26861/30842 control chromosomes at a frequency of 0.8709228, which is approximately 156 times the estimated maximal expected allele frequency of a pathogenic PMM2 variant (0.0055902), suggesting this variant is likely a benign polymorphism. Taken together, this variant is classified as benign.

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