ClinVar Miner

Submissions for variant NM_007289.4(MME):c.1241A>G (p.Tyr414Cys)

gnomAD frequency: 0.00001  dbSNP: rs202095767
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV001090111 SCV001245575 likely benign Early-onset dementia of unclear type 2019-10-28 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001873446 SCV002266393 uncertain significance not provided 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 414 of the MME protein (p.Tyr414Cys). This variant is present in population databases (rs202095767, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with MME-related conditions. ClinVar contains an entry for this variant (Variation ID: 870551). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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.

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