ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.419T>C (p.Met140Thr)

gnomAD frequency: 0.00002  dbSNP: rs766172626
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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 RCV001205012 SCV001376247 uncertain significance not provided 2024-10-26 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 140 of the NEXMIF protein (p.Met140Thr). This variant is present in population databases (rs766172626, gnomAD 0.008%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with NEXMIF-related conditions. ClinVar contains an entry for this variant (Variation ID: 936249). 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. 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.
GeneDx RCV001205012 SCV001804691 likely benign not provided 2019-04-02 criteria provided, single submitter clinical testing

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