ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3643dup (p.Asp1215fs) (rs781333644)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000588759 SCV000698212 likely pathogenic Familial dysautonomia 2017-03-27 criteria provided, single submitter clinical testing Variant summary: The IKBKAP c.3643dupG (p.Asp1215Glyfs) variant results in a premature termination codon, predicted to cause a truncated or absent IKBKAP protein due to nonsense mediated decay, which are commonly known mechanisms for disease. One in silico tool predicts a damaging outcome for this variant. This variant was found in 1/121412 control chromosomes at a frequency of 0.0000082, which does not exceed the estimated maximal expected allele frequency of a pathogenic IKBKAP variant (0.001838). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely pathogenic.
Counsyl RCV000588759 SCV001132232 likely pathogenic Familial dysautonomia 2016-12-21 no assertion criteria provided clinical testing

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