ClinVar Miner

Submissions for variant NM_001017420.3(ESCO2):c.383G>A (p.Gly128Glu)

gnomAD frequency: 0.00010  dbSNP: rs557813179
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145967 SCV000193112 uncertain significance Roberts-SC phocomelia syndrome 2013-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001430181 SCV001632911 likely benign not provided 2023-09-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002514815 SCV003591298 uncertain significance Inborn genetic diseases 2021-12-07 criteria provided, single submitter clinical testing The c.383G>A (p.G128E) alteration is located in exon 3 (coding exon 2) of the ESCO2 gene. This alteration results from a G to A substitution at nucleotide position 383, causing the glycine (G) at amino acid position 128 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001826798 SCV002083238 benign Roberts syndrome 2019-10-28 no assertion criteria provided clinical testing

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