ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.9400del (p.Val3134fs)

dbSNP: rs886042614
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000319016 SCV000335431 likely pathogenic not provided 2015-10-01 criteria provided, single submitter clinical testing
Invitae RCV000319016 SCV002240617 pathogenic not provided 2023-09-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the EYS protein in which other variant(s) (p.Tyr3135*) have been determined to be pathogenic (PMID: 18976725, 30337596). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 283385). This variant has not been reported in the literature in individuals affected with EYS-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the EYS gene (p.Val3134Phefs*51). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 11 amino acid(s) of the EYS protein and extend the protein by 39 additional amino acid residues.

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