ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3398G>A (p.Arg1133His)

gnomAD frequency: 0.00001  dbSNP: rs143580972
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489816 SCV000577133 uncertain significance not provided 2017-04-10 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the IKBKAP gene. The R1133H variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R1133H variant is observed in 3/66736 alleles from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R1133H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Natera, Inc. RCV001829402 SCV002082026 uncertain significance Familial dysautonomia 2020-09-29 no assertion criteria provided clinical testing

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