ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1039G>T (p.Val347Leu)

gnomAD frequency: 0.00009  dbSNP: rs748458910
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000630680 SCV000751645 likely benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004025383 SCV004074616 uncertain significance not specified 2023-09-06 criteria provided, single submitter clinical testing The p.V347L variant (also known as c.1039G>T), located in coding exon 10 of the IKBKAP gene, results from a G to T substitution at nucleotide position 1039. The valine at codon 347 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. 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. RCV001276242 SCV001462248 uncertain significance Familial dysautonomia 2020-01-17 no assertion criteria provided clinical testing

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