ClinVar Miner

Submissions for variant NM_014263.4(YME1L1):c.168+1417C>T

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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 RCV002785991 SCV003020385 uncertain significance not provided 2023-01-10 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the YME1L1 gene. It does not directly change the encoded amino acid sequence of the YME1L1 protein. This variant is present in population databases (rs201546593, gnomAD 0.01%). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with YME1L1-related conditions.
PreventionGenetics, part of Exact Sciences RCV003961133 SCV004772898 likely benign YME1L1-related disorder 2019-07-23 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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