ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1112A>G (p.Tyr371Cys)

gnomAD frequency: 0.00005  dbSNP: rs747603780
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002113149 SCV002408550 likely benign not provided 2024-03-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004616994 SCV005112555 uncertain significance not specified 2024-06-15 criteria provided, single submitter clinical testing The p.Y371C variant (also known as c.1112A>G), located in coding exon 10 of the IKBKAP gene, results from an A to G substitution at nucleotide position 1112. The tyrosine at codon 371 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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