ClinVar Miner

Submissions for variant NM_004444.5(EPHB4):c.2576A>G (p.Lys859Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004285000 SCV003909220 uncertain significance Cardiovascular phenotype 2023-03-06 criteria provided, single submitter clinical testing The c.2576A>G (p.K859R) alteration is located in exon 15 (coding exon 15) of the EPHB4 gene. This alteration results from a A to G substitution at nucleotide position 2576, causing the lysine (K) at amino acid position 859 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Clinical Genomics Laboratory, Washington University in St. Louis RCV003458914 SCV004176988 uncertain significance Lymphatic malformation 7 2023-09-01 criteria provided, single submitter clinical testing The EPHB4 c.2576A>G (p.Lys859Arg) variant was identified at a near heterozygous allelic fraction. This variant, to our knowledge, has not been reported in the medical literature. This variant has been reported in the ClinVar database as a variant of uncertain significance by one submitter (ClinVar ID: 2494726). This variant is only observed on 1/152222 alleles in the general population (gnomAD v.3.1.2), indicating it is not a common variant. Computational predictors suggest that the 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 this variant is uncertain at this time.

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