ClinVar Miner

Submissions for variant NM_004444.5(EPHB4):c.1555G>A (p.Gly519Ser)

gnomAD frequency: 0.00003  dbSNP: rs761047725
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002756988 SCV003026497 likely benign not provided 2025-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004064716 SCV003541373 uncertain significance Cardiovascular phenotype 2021-06-22 criteria provided, single submitter clinical testing The c.1555G>A (p.G519S) alteration is located in exon 8 (coding exon 8) of the EPHB4 gene. This alteration results from a G to A substitution at nucleotide position 1555, causing the glycine (G) at amino acid position 519 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Clinical Genomics Laboratory, Washington University in St. Louis RCV005051983 SCV005685293 uncertain significance Capillary malformation-arteriovenous malformation 2 2024-07-05 criteria provided, single submitter clinical testing A EPHB4 c.1555G>A (p.Gly519Ser) variant was identified at a heterozygous allelic fraction of 52%, a frequency which may be consistent with germline origin. This variant, to our knowledge, has not been reported in the medical literature and is only observed on 24/1,591,000 alleles in the general population (gnomAD v4.1.0). The variant has been reported in the ClinVar database as a variant of uncertain clinical significance by two submitters (ClinVar Variation ID: 1985154). Computational predictors suggest that this variant does not impact EPHB4 function. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of the EPHB4 c.1555G>A (p.Gly519Ser) variant is uncertain at this time.

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