ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.267_281del (p.Ala90_Ser94del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001194404 SCV001363921 likely pathogenic Hereditary Paraganglioma-Pheochromocytoma Syndromes 2019-05-14 criteria provided, single submitter clinical testing Variant summary: SDHD c.267_281del15 (p.Ala90_Ser94del) results in an in-frame deletion that is predicted to remove 5 amino acids from the encoded protein. The variant was absent in 251460 control chromosomes (gnomAD). To our knowledge, no occurrence of c.267_281del15 in individuals affected with Hereditary Paraganglioma-Pheochromocytoma Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Small in-frame deletions overlapping with our variant of interest have been reported in patients with Phaeochromocytoma (Met91_Ser94del) and Paraganglioma (Tyr93del and Asp92_Leu95del) (HGMD). In addition, missense variants affecting codon 92 that is found within the deleted region of our variant of interest have been reported numerous patients, suggesting that this region may be critical for protein function. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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