ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3937G>A (p.Glu1313Lys)

dbSNP: rs1554735745
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001861910 SCV002282164 uncertain significance not provided 2021-08-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002462033 SCV002755116 uncertain significance Inborn genetic diseases 2022-02-02 criteria provided, single submitter clinical testing The p.E1313K variant (also known as c.3937G>A), located in coding exon 36 of the IKBKAP gene, results from a G to A substitution at nucleotide position 3937. The glutamic acid at codon 1313 is replaced by lysine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000693675 SCV001452809 uncertain significance Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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