ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1792G>A (p.Gly598Arg)

gnomAD frequency: 0.00001  dbSNP: rs886063347
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000295825 SCV000476574 uncertain significance Familial dysautonomia 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory 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, this variant 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 (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV001297829 SCV001486863 uncertain significance not provided 2021-08-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004022099 SCV002755118 uncertain significance not specified 2022-09-05 criteria provided, single submitter clinical testing The p.G598R variant (also known as c.1792G>A), located in coding exon 15 of the IKBKAP gene, results from a G to A substitution at nucleotide position 1792. The glycine at codon 598 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000295825 SCV001457918 uncertain significance Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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