ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) (rs137853022)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000006459 SCV000485181 likely pathogenic Familial dysautonomia 2016-01-05 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000006459 SCV000734629 pathogenic Familial dysautonomia no assertion criteria provided clinical testing
Inherited Neuropathy Consortium RCV000789660 SCV000929032 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Invitae RCV000006459 SCV000836445 pathogenic Familial dysautonomia 2018-02-18 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 696 of the IKBKAP protein (p.Arg696Pro). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and proline. This variant is not present in population databases (ExAC no frequency). This variant is a rare pathogenic change among individuals of Ashkenazi Jewish ancestry affected with familial dysautonomia and has a carrier frequency of 1 in 1230 (0.08%) in this population (PMID:11179008, 11179021,12116234). ClinVar contains an entry for this variant (Variation ID: 6086). Experimental studies have shown that this missense change results in defective phosphorylation (PMID: 11179021). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000006459 SCV000026642 pathogenic Familial dysautonomia 2002-07-01 no assertion criteria provided literature only

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