ClinVar Miner

Submissions for variant NM_022051.3(EGLN1):c.407C>T (p.Ser136Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004051276 SCV002626494 uncertain significance not specified 2024-05-23 criteria provided, single submitter clinical testing The p.S136L variant (also known as c.407C>T), located in coding exon 1 of the EGLN1 gene, results from a C to T substitution at nucleotide position 407. The serine at codon 136 is replaced by leucine, an amino acid with dissimilar 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.

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