ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu)

dbSNP: rs28939712
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Total submissions: 3
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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 RCV000006460 SCV001478676 likely pathogenic Familial dysautonomia 2021-01-07 criteria provided, single submitter clinical testing Variant summary: IKBKAP c.2741C>T (p.Pro914Leu) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 242538 control chromosomes (gnomAD). c.2741C>T has been reported in the literature in at least one compound heterozygous individual affected with Familial Dysautonomia (e.g. Leyne_2003). This patient, the first non-Ashkenazi Jewish individual reported with this disorder, has been cited multiple times in subsequent publications (e.g. Gold-von Simson_2008, Monaghan_2008, Rubin_2017). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. 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.
OMIM RCV000006460 SCV000026643 pathogenic Familial dysautonomia 2003-05-01 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000789661 SCV000929034 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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