ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.312T>A (p.Cys104Ter) (rs1291760879)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000596363 SCV000707658 uncertain significance not provided 2017-04-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000778872 SCV000915269 uncertain significance Familial dysautonomia 2017-10-09 criteria provided, single submitter clinical testing Variants in the IKBKAP gene have been associated with familial dysautonomia. The IKBKAP c.312T>A (p.Cys104Ter) variant is a stop-gained variant predicted to result in premature termination of the protein. The variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018) and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score for this variant, it could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for familial dysautonomia.

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