ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1141G>A (p.Val381Met)

gnomAD frequency: 0.00002  dbSNP: rs769108524
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004035477 SCV002755580 uncertain significance not specified 2020-08-26 criteria provided, single submitter clinical testing The p.V381M variant (also known as c.1141G>A), located in coding exon 10 of the IKBKAP gene, results from a G to A substitution at nucleotide position 1141. The valine at codon 381 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is poorly 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.
Fulgent Genetics, Fulgent Genetics RCV002480905 SCV002776254 uncertain significance Medulloblastoma; Familial dysautonomia 2022-03-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004692394 SCV005195522 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV001278726 SCV001465758 uncertain significance Familial dysautonomia 2020-08-19 no assertion criteria provided clinical testing

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