ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3061G>T (p.Ala1021Ser)

dbSNP: rs1296107083
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002462892 SCV002755680 uncertain significance Inborn genetic diseases 2021-07-21 criteria provided, single submitter clinical testing The p.A1021S variant (also known as c.3061G>T), located in coding exon 27 of the IKBKAP gene, results from a G to T substitution at nucleotide position 3061. The alanine at codon 1021 is replaced by serine, an amino acid with 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.
Fulgent Genetics, Fulgent Genetics RCV002504389 SCV002816428 uncertain significance Medulloblastoma; Familial dysautonomia 2022-03-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277375 SCV001464323 uncertain significance Familial dysautonomia 2020-08-25 no assertion criteria provided clinical testing

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