ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.1050_1133dup (p.Gln351_Arg378dup) (rs1555935486)

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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 RCV000587877 SCV000696480 likely pathogenic Pyruvate dehydrogenase complex deficiency 2016-09-22 criteria provided, single submitter clinical testing Variant summary: The PDHA1 c.1050_1133dup84 (p.Glu351_Arg378dup) variant involves the duplication of a stretch of 84 nucleotides in exon 11. One in silico tool predicts a benign outcome for this variant. The information on allele frequency of this variant in population databases is not available due to the ExAC and ESP do not cover duplication variants of this size. This variant has been reported in two male patients with PDHc deficiency and absent in 100 tested control chromosomes. Taken together, this variant is classified as likely pathogenic until more evidence becomes available.

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