ClinVar Miner

Submissions for variant NM_004438.5(EPHA4):c.2956G>A (p.Val986Ile)

gnomAD frequency: 0.00066  dbSNP: rs141387215
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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 RCV001863492 SCV002109365 uncertain significance not provided 2024-06-19 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 986 of the EPHA4 protein (p.Val986Ile). This variant is present in population databases (rs141387215, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with EPHA4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1353594). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004038966 SCV004864508 uncertain significance not specified 2024-01-19 criteria provided, single submitter clinical testing The c.2956G>A (p.V986I) alteration is located in exon 17 (coding exon 17) of the EPHA4 gene. This alteration results from a G to A substitution at nucleotide position 2956, causing the valine (V) at amino acid position 986 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003948770 SCV004765669 likely benign EPHA4-related disorder 2022-07-25 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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