ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3730T>G (p.Phe1244Val)

gnomAD frequency: 0.00001  dbSNP: rs756928248
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000231324 SCV000291965 uncertain significance not provided 2016-04-01 criteria provided, single submitter clinical testing The F1244V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The F1244V variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position where amino acids with similar properties to Phenylalanine are tolerated across species. 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.
Ambry Genetics RCV004020907 SCV002755127 uncertain significance not specified 2019-09-27 criteria provided, single submitter clinical testing The p.F1244V variant (also known as c.3730T>G), located in coding exon 34 of the IKBKAP gene, results from a T to G substitution at nucleotide position 3730. The phenylalanine at codon 1244 is replaced by valine, an amino acid with highly 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. RCV001828118 SCV002082006 uncertain significance Familial dysautonomia 2020-02-09 no assertion criteria provided clinical testing

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