ClinVar Miner

Submissions for variant NM_004431.5(EPHA2):c.2915_2916del (p.Val972fs)

dbSNP: rs2024441691
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001053980 SCV001218271 pathogenic Cataract 6 multiple types 2019-12-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant results in an extension of the EPHA2 protein. Other variant(s) that result in a similarly extended protein product (p.Ile976Hisfs*37) have been determined to be pathogenic (PMID: 24940039). This suggests that these extensions are likely to be causative of disease. This variant has been reported to affect EPHA2 protein function (PMID: 22570727, 26900323). This variant has been observed in individual(s) with autosomal dominant congenital cataracts (PMID: 19306328, Invitae). This variant is also known as c.2915_2916delTG (p.V972GfsX39) in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change results in a frameshift in the EPHA2 gene (p.Val972Glyfs*40). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 5 amino acids of the EPHA2 protein and extend the protein by an additional 34 amino acids.
OMIM RCV001053980 SCV000034418 pathogenic Cataract 6 multiple types 2009-05-01 no assertion criteria provided literature only

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