ClinVar Miner

Submissions for variant NM_014263.4(YME1L1):c.962T>C (p.Val321Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003733436 SCV004524045 uncertain significance not provided 2023-04-03 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals affected with YME1L1-related conditions. This variant is present in population databases (rs202145096, gnomAD 0.03%). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 378 of the YME1L1 protein (p.Val378Ala).

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