ClinVar Miner

Submissions for variant NM_005932.4(MIPEP):c.2137G>A (p.Glu713Lys)

gnomAD frequency: 0.00002  dbSNP: rs745535699
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003132652 SCV003808811 uncertain significance Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome 2019-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV005377338 SCV006032688 uncertain significance Inborn genetic diseases 2025-02-26 criteria provided, single submitter clinical testing The c.2137G>A (p.E713K) alteration is located in exon 19 (coding exon 19) of the MIPEP gene. This alteration results from a G to A substitution at nucleotide position 2137, causing the glutamic acid (E) at amino acid position 713 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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