ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3572C>T (p.Ala1191Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004067516 SCV002755020 uncertain significance not specified 2019-12-28 criteria provided, single submitter clinical testing The p.A1191V variant (also known as c.3572C>T), located in coding exon 32 of the IKBKAP gene, results from a C to T substitution at nucleotide position 3572. The amino acid change results in alanine to valine at codon 1191, an amino acid with similar properties. However, this change occurs in the last base pair of coding exon 32, which makes it likely to have some effect on normal mRNA splicing. 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.
Fulgent Genetics, Fulgent Genetics RCV005042844 SCV005674473 uncertain significance Medulloblastoma; Familial dysautonomia 2024-06-14 criteria provided, single submitter clinical testing

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